Canonical Allele Identifier: PA2827616426
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 536395
ClinVar RCV Id: RCV000644837 RCV000992932 RCV001262697 RCV001270092 RCV002440309 RCV003317317
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338456.1:p.Val919Leu
CA5297536
NM_001351527.2:c.2755G>C
CA375334027
NM_001351527.2:c.2755G>T