Canonical Allele Identifier: PA2827617711
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 468494
ClinVar RCV Id: RCV000762582 RCV001167461 RCV001167462 RCV000540061 RCV001848950 RCV002252164 RCV002456164 RCV001000648 RCV004538008
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338457.1:p.Lys827Glu
CA5297587
NM_001351528.2:c.2479A>G