Allele Registry

Canonical Allele Identifier: PA2826254509

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000415223

RCV000588587

RCV001785610

ClinVar Variation:

374024

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188331.1:p.Gly258Ser	CA7297231 NM_001201402.2:c.772G>A