Canonical Allele Identifier: PA2827616623
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 242634
ClinVar RCV Id: RCV000329054 RCV000385882 RCV000644851 RCV001084313 RCV002356315 RCV004532973
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338456.1:p.Pro1270Leu
CA048312
NM_001351527.2:c.3809C>T