Canonical Allele Identifier: PA114864
Gene: HGSNAT HGNC NCBI

Linked Data

ClinVar Variation Id: 1232
ClinVar RCV Id: RCV000001291 RCV000504894 RCV000512873 RCV000763184 RCV003330379
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689632.2:p.Pro283Leu
CA114863
NM_152419.3:c.848C>T