Allele Registry

Canonical Allele Identifier: PA2826254549

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000255537

RCV000507823

RCV000590447

ClinVar Variation:

265349

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188331.1:p.Tyr293Cys	CA7297190 NM_001201402.2:c.878A>G