ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827616442
Gene: SETX
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338456.1:p.His963Tyr
CA5297521
NM_001351527.2:c.2887C>T