Canonical Allele Identifier: PA114872
Gene: HGSNAT HGNC NCBI

Linked Data

ClinVar Variation Id: 1237
ClinVar RCV Id: RCV000001296 RCV000799182 RCV001030801 RCV001699017 RCV003114169 RCV003887846
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689632.2:p.Arg344Cys
CA114871
NM_152419.3:c.1030C>T