Allele Registry

Canonical Allele Identifier: PA915953618

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV000020119

RCV000516849

RCV001823101

RCV002514123

ClinVar Variation:

21051

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Thr310Met	CA341559 NM_000083.3:c.929C>T