Canonical Allele Identifier: PA2573190289
Gene: CLCN7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1353517
ClinVar RCV Id: RCV001873883
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278.1:p.Arg696Trp
CA394185799
NM_001287.6:c.2086C>T