Allele Registry

Canonical Allele Identifier: PA915953261

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV000605421

RCV001860307

ClinVar Variation:

513471

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Arg5Trp	CA369676375 NM_000083.3:c.13C>T