Allele Registry

Canonical Allele Identifier: PA645429922

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000271252

RCV000812178

ClinVar Variation:

287587

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Thr573Ala	CA7296934 NM_000153.4:c.1717A>G