Allele Registry

Canonical Allele Identifier: PA274232

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000169377

RCV001269916

ClinVar Variation:

188997

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Arg531Cys	CA274231 NM_000153.4:c.1591C>T