ClinGen Allele Registry
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Canonical Allele Identifier:
PA111752
Gene: BMPR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
23839
ClinVar RCV:
RCV000009345
RCV001823866
RCV004547472
ClinVar Variation:
8800
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001195.2:p.Cys347Tyr
CA278077
NM_001204.7:c.1040G>A