Allele Registry

Canonical Allele Identifier: PA2826254736

Gene: GALC HGNC NCBI

ClinVar Allele:

330925

ClinVar RCV:

RCV000262278

RCV003940223

ClinVar Variation:

314747

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188331.1:p.Glu499Lys	CA7296979 NM_001201402.2:c.1495G>A