Allele Registry

Canonical Allele Identifier: PA645502327

Gene: CLCN7 HGNC NCBI

ClinVar RCV:

RCV000412760

RCV000824813

ClinVar Variation:

372326

HGVS (amino-acid)	Matching Registered Transcripts
NP_001278.1:p.Tyr715Cys	CA16042924 NM_001287.6:c.2144A>G