Allele Registry

Canonical Allele Identifier: PA916043673

Gene: HGSNAT HGNC NCBI

ClinVar Allele:

314601

ClinVar RCV:

RCV000398564

RCV000534224

RCV000592259

RCV000675865

ClinVar Variation:

363150

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350156.1:p.Lys552Gln	CA4736955 NM_001363227.2:c.1654A>C