Allele Registry

Canonical Allele Identifier: PA645428724

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000288663

RCV002261049

RCV003910185

ClinVar Variation:

314753

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Gly333Arg	CA7297185 NM_000153.4:c.997G>A CA390747472 NM_000153.4:c.997G>C