Allele Registry

Canonical Allele Identifier: PA273995

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000169155

RCV002298498

ClinVar Variation:

188817

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Glu130Lys	CA273994 NM_000153.4:c.388G>A