Canonical Allele Identifier: PA2827616459
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 260502
ClinVar RCV Id: RCV000250229 RCV000387370 RCV000541126 RCV001168778 RCV001391479 RCV001706351 RCV001848031
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338456.1:p.Lys992Arg
CA5297507
NM_001351527.2:c.2975A>G