Allele Registry

Canonical Allele Identifier: PA915953575

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV002043970

ClinVar Variation:

1347742

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Leu283Phe	CA341553 NM_000083.3:c.847C>T