ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031111
Gene: SETX
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338457.1:p.Thr2507Ala
CA5296390
NM_001351528.2:c.7519A>G