ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499281549
Gene: SETBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056374.2:p.Val688Ile
CA8945715
NM_015559.3:c.2062G>A