ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580398742
Gene: SETBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1699363
ClinVar RCV Id:
RCV002273220
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056374.2:p.Asp1313His
CA402325520
NM_015559.3:c.3937G>C