Allele Registry

Canonical Allele Identifier: PA220409

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000178047

RCV000256023

RCV000790805

ClinVar Variation:

92503

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Thr112Ala	CA220408 NM_000153.4:c.334A>G