Canonical Allele Identifier: PA114874
Gene: HGSNAT HGNC NCBI

Linked Data

ClinVar Variation Id: 1238
ClinVar RCV Id: RCV000001297 RCV001723529 RCV001851534
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689632.2:p.Ser518Phe
CA114873
NM_152419.3:c.1553C>T