Allele Registry

Canonical Allele Identifier: PA275000

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000174663

RCV000723965

ClinVar Variation:

194322

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Glu515Lys	CA274999 NM_000153.4:c.1543G>A