Allele Registry

Canonical Allele Identifier: PA915953795

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV000517072

RCV001049002

RCV003338626

ClinVar Variation:

447054

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Val536Ile	CA4537439 NM_000083.3:c.1606G>A