Allele Registry

Canonical Allele Identifier: PA645428650

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000415223

RCV000588587

RCV001785610

ClinVar Variation:

374024

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Gly284Ser	CA7297231 NM_000153.4:c.850G>A