Allele Registry

Canonical Allele Identifier: PA915953511

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV000484110

RCV001053739

ClinVar Variation:

420697

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Val236Ala	CA16618364 NM_000083.3:c.707T>C