Allele Registry

Canonical Allele Identifier: PA2573163073

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV002037226

ClinVar Variation:

1345348

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Arg531Leu	CA390746115 NM_000153.4:c.1592G>T