Canonical Allele Identifier: PA2827616978
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 2295
ClinVar RCV Id: RCV000002385 RCV001288413 RCV003764517
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338456.1:p.Leu1977Phe
CA252191
NM_001351527.2:c.5929C>T