Allele Registry

Canonical Allele Identifier: PA645429880

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000262278

RCV003940223

ClinVar Variation:

314747

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Glu525Lys	CA7296979 NM_000153.4:c.1573G>A