ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645438493
Gene: BMPR2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001195.2:p.Asp487Val
CA350344525
NM_001204.7:c.1460A>T