Canonical Allele Identifier: PA2827616887
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 444782
ClinVar RCV Id: RCV000512696 RCV002527420
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338456.1:p.Gln1774His
CA5297016
NM_001351527.2:c.5322G>T
CA375320147
NM_001351527.2:c.5322G>C