Allele Registry

Canonical Allele Identifier: PA645428671

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000285229

RCV000522818

ClinVar Variation:

280957

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Ser303Phe	CA7297219 NM_000153.4:c.908C>T