Allele Registry

Canonical Allele Identifier: PA658803997

Gene: GALNS HGNC NCBI

ClinVar Allele:

530382

ClinVar RCV:

RCV000633460

ClinVar Variation:

528322

HGVS (amino-acid)	Matching Registered Transcripts
NP_000503.1:p.Asp388Glu	CA8234784 NM_000512.5:c.1164C>A CA397097687 NM_000512.5:c.1164C>G