ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828810785
Gene: SETBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2634823
ClinVar RCV Id:
RCV004531755
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366071.1:p.Asn1277Ser
CA402325275
NM_001379142.1:c.3830A>G