ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828809011
Gene: SETBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366070.1:p.Pro325Thr
CA402317236
NM_001379141.1:c.973C>A