Allele Registry

Canonical Allele Identifier: PA259864

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000023588

RCV001270016

ClinVar Variation:

30614

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Asp544Asn	CA259863 NM_000153.4:c.1630G>A