ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139690957
Gene: BMPR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
895484
ClinVar RCV Id:
RCV001137606
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001195.2:p.Thr612Ile
CA350346524
NM_001204.7:c.1835C>T