Allele Registry

Canonical Allele Identifier: PA2826254756

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000023588

RCV001270016

ClinVar Variation:

30614

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188331.1:p.Asp518Asn	CA259863 NM_001201402.2:c.1552G>A