Canonical Allele Identifier: PA1139689992
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 953331
ClinVar RCV Id: RCV001225606

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Ser576Ala
CA369646643
NM_000083.3:c.1726T>G