ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828810828
Gene: SETBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2101095
ClinVar RCV Id:
RCV003033661
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366071.1:p.Ser1325Asn
CA402325603
NM_001379142.1:c.3974G>A