Allele Registry

Canonical Allele Identifier: PA645428267

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000373901

RCV004021621

ClinVar Variation:

314764

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Trp10Arg	CA7297530 NM_000153.4:c.28T>C CA390772084 NM_000153.4:c.28T>A