Canonical Allele Identifier: PA2827616716
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 1304958
ClinVar RCV Id: RCV001754526 RCV002540237 RCV003234102 RCV003234101
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338456.1:p.Val1446Leu
CA375326482
NM_001351527.2:c.4336G>T
CA375326483
NM_001351527.2:c.4336G>C