Allele Registry

Canonical Allele Identifier: PA347408

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV000194136

RCV000793565

RCV001823126

RCV003326370

ClinVar Variation:

208084

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.2:p.Thr550Met	CA347407 NM_000083.2:c.1649C>T