ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096756
Gene: SETX
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_055861.3:p.Arg1294Cys
NM_015046.7:c.3880C>T