ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3067234251
Gene: BMPR2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001195.2:p.Gln30Lys
CA350398987
NM_001204.7:c.88C>A