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C215691Level 6

CHRNA1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CHRNA1 wild-type allele is located in the vicinity of 2q31.1 and is approximately 40 kb in length. This allele, which encodes acetylcholine receptor subunit alpha protein, plays a role in neurotransmitter-gated ion transport. Mutations in the gene are associated with lethal type multiple pterygium syndrome and congenital myasthenic syndrome types 1A (slow-channel) and 1B (fast-channel).

**Synonyms:** - ACHRA - ACHRD - Acetylcholine Receptor, Muscle, Alpha Subunit Gene - Acetylcholine Receptor, Nicotinic, Alpha 1 (Muscle) Gene - CHNRA - CHRNA - CMS1A - CMS1B - CMS2A - Cholinergic Receptor Nicotinic Alpha 1 Subunit wt Allele - Cholinergic Receptor, Nicotinic Alpha 1 Gene - Cholinergic Receptor, Nicotinic Alpha Polypeptide 1 Gene - Cholinergic Receptor, Nicotinic, Alpha 1 (Muscle) Gene - Cholinergic Receptor, Nicotinic, Alpha Polypeptide 1 (Muscle) Gene - FCCMS - Muscle Nicotinic Acetylcholine Receptor Gene - Nicotinic Acetylcholine Receptor Alpha Subunit Gene - Nicotinic Cholinergic Receptor Alpha 1 Gene - SCCMS

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