Canonical Allele Identifier: PA2825051957
Gene: CLCN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1365247
ClinVar RCV Id: RCV001907885

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000075.1:p.Arg406His
CA10413877
NM_000084.5:c.1217G>A