Allele Registry

Canonical Allele Identifier: PA645428685

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000412229

RCV001782868

ClinVar Variation:

370631

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Pro318Ala	CA16041700 NM_000153.4:c.952C>G