ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915987655
Gene: SETBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
803486
ClinVar RCV Id:
RCV000990089
RCV002549735
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056374.2:p.Leu1278Val
CA8945995
NM_015559.3:c.3832C>G