Allele Registry

Canonical Allele Identifier: PA2826254782

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000271252

RCV000812178

ClinVar Variation:

287587

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188331.1:p.Thr547Ala	CA7296934 NM_001201402.2:c.1639A>G