Allele Registry

Canonical Allele Identifier: PA220411

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000078201

RCV000545705

ClinVar Variation:

92504

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Met117Val	CA220410 NM_000153.4:c.349A>G