ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580169917
Gene: BMPR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1783333
ClinVar RCV Id:
RCV002421642
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001195.2:p.Arg357Lys
CA350341491
NM_001204.7:c.1070G>A