Canonical Allele Identifier: PA645390532
Gene: HGSNAT HGNC NCBI

Linked Data

ClinVar Variation Id: 420117
ClinVar RCV Id: RCV000478941 RCV000625332 RCV000802522 RCV001252520 RCV002271509 RCV002526563
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689632.2:p.Tyr627Cys
CA4737042
NM_152419.3:c.1880A>G