Allele Registry

Canonical Allele Identifier: PA2826254368

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000169155

RCV002298498

ClinVar Variation:

188817

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188331.1:p.Glu104Lys	CA273994 NM_001201402.2:c.310G>A