Allele Registry

Canonical Allele Identifier: PA2826254330

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000522459

RCV000673406

RCV002252151

RCV002307527

ClinVar Variation:

449966

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188331.1:p.Pro63Leu	CA7297441 NM_001201402.2:c.188C>T