Allele Registry

Canonical Allele Identifier: PA915953550

Gene: CLCN1 HGNC NCBI

ClinVar Allele:

33899

ClinVar RCV:

RCV000497783

RCV000763168

RCV003227570

ClinVar Variation:

21047

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Thr268Met	CA341551 NM_000083.3:c.803C>T