Allele Registry

Canonical Allele Identifier: PA915953621

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV000019094

RCV000019095

RCV000020121

RCV000516960

RCV000626585

RCV000763169

ClinVar Variation:

17542

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Arg317Gln	CA258024 NM_000083.3:c.950G>A