Allele Registry

Canonical Allele Identifier: PA2499229080

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV001367963

ClinVar Variation:

1058786

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Glu274Ala	CA390748003 NM_000153.4:c.821A>C