Allele Registry

Canonical Allele Identifier: PA645428293

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000415102

RCV001198292

ClinVar Variation:

374023

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Ala66Thr	CA16043485 NM_000153.4:c.196G>A