Allele Registry

Canonical Allele Identifier: PA913191930

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000761503

ClinVar Variation:

623356

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Arg531Pro	CA390746116 NM_000153.4:c.1592G>C