Allele Registry

Canonical Allele Identifier: PA2828082914

Gene: HGSNAT HGNC NCBI

ClinVar RCV:

RCV000190844

RCV000190845

RCV000224674

RCV000504631

RCV000507277

RCV001003049

RCV001082167

RCV003407694

ClinVar Variation:

208816

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350157.1:p.Ala551Thr	CA204929 NM_001363228.2:c.1651G>A