Canonical Allele Identifier: PA2827618130
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 448330
ClinVar RCV Id: RCV000764811 RCV001579382 RCV000518382 RCV002341213 RCV003233685 RCV003233686
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338457.1:p.Pro1622Leu
CA5297121
NM_001351528.2:c.4865C>T