ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915987606
Gene: SETBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056374.2:p.Ala704Val
CA402320415
NM_015559.3:c.2111C>T