Allele Registry

Canonical Allele Identifier: PA916003891

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000078201

RCV000545705

ClinVar Variation:

92504

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188330.1:p.Met94Val	CA220410 NM_001201401.2:c.280A>G