Allele Registry

Canonical Allele Identifier: PA2826254302

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000415102

RCV001198292

ClinVar Variation:

374023

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188331.1:p.Ala40Thr	CA16043485 NM_001201402.2:c.118G>A