ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741956474
Gene: SETBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056374.2:p.Pro563Arg
CA402319126
NM_015559.3:c.1688C>G