Canonical Allele Identifier: PA2825662471
Gene: CLCN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 591443
ClinVar RCV Id: RCV000722622

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121370.1:p.Asp461Ala
CA413185937
NM_001127898.4:c.1382A>C