Allele Registry

Canonical Allele Identifier: PA915953440

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV001208684

RCV003144110

ClinVar Variation:

21045

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Glu193Lys	CA341547 NM_000083.3:c.577G>A