Canonical Allele Identifier: PA2827617242
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 365342
ClinVar RCV Id: RCV000300843 RCV000337112 RCV000556745 RCV000507046 RCV001643105 RCV001848723 RCV002402088
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338456.1:p.Pro2575Leu
CA5296347
NM_001351527.2:c.7724C>T