Allele Registry

Canonical Allele Identifier: PA915953805

Gene: CLCN1 HGNC NCBI

ClinVar Allele:

33893

ClinVar RCV:

RCV001224306

RCV001826481

RCV003137538

ClinVar Variation:

21041

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Ile556Asn	CA341541 NM_000083.3:c.1667T>A