ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741956575
Gene: SETBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2727037
ClinVar RCV Id:
RCV003557063
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056374.2:p.Asp1328Asn
CA402325620
NM_015559.3:c.3982G>A