ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499242248
Gene: BMPR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001379091
ClinVar Variation:
1067745
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001195.2:p.Arg491Leu
CA350344573
NM_001204.7:c.1472G>T