ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827617317
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
378574
ClinVar RCV Id:
RCV000440159
RCV001861495
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338457.1:p.Thr8Met
CA16605391
NM_001351528.2:c.23C>T