Canonical Allele Identifier: PA2827616435
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 448315
ClinVar RCV Id: RCV000517506 RCV001755772 RCV003766933 RCV003233673 RCV003233674
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338456.1:p.Pro948Thr
CA375333570
NM_001351527.2:c.2842C>A