ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827616634
Gene: SETX
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338456.1:p.Arg1294His
CA5297312
NM_001351527.2:c.3881G>A