Canonical Allele Identifier: PA2827616469
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 448317
ClinVar RCV Id: RCV000517441 RCV000644833 RCV001311797 RCV002438247
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338456.1:p.Gly1006Arg
CA5297499
NM_001351527.2:c.3016G>A
CA375332803
NM_001351527.2:c.3016G>C