Canonical Allele Identifier: PA2828082914
Gene: HGSNAT HGNC NCBI

Linked Data

ClinVar Variation Id: 208816
ClinVar RCV Id: RCV000190844 RCV000190845 RCV000224674 RCV000504631 RCV000507277 RCV001003049 RCV001082167 RCV003407694
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Amino-acid Alleles

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