Canonical Allele Identifier: PA2827617804
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 448319
ClinVar RCV Id: RCV000516603 RCV003233678 RCV004537860 RCV001851461 RCV003233677
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338457.1:p.Arg1010Cys
CA5297495
NM_001351528.2:c.3028C>T