Allele Registry

Canonical Allele Identifier: PA2826254547

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV003328087

ClinVar Variation:

2579652

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188331.1:p.Pro292Leu	CA390747571 NM_001201402.2:c.875C>T