Canonical Allele Identifier: PA915953752
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17537
ClinVar RCV Id: RCV000019089 RCV000020101 RCV001237767
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Pro480Leu
CA258018
NM_000083.3:c.1439C>T