ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827616379
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468493
ClinVar RCV Id:
RCV000527749
RCV002456163
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338456.1:p.Thr816Ala
CA5297590
NM_001351527.2:c.2446A>G