Canonical Allele Identifier: PA915953781
Gene: CLCN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Phe494Leu
CA4537404
NM_000083.3:c.1480T>C
CA369645555
NM_000083.3:c.1482T>G
CA369645557
NM_000083.3:c.1482T>A