Canonical Allele Identifier: PA2573060395
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1309580
ClinVar RCV Id: RCV001765749 RCV001882893
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Val465Ile
CA4537337
NM_000083.3:c.1393G>A