ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139690713
Gene: BMPR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
834594
ClinVar RCV Id:
RCV001035315
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001195.2:p.Cys60Phe
CA350399336
NM_001204.7:c.179G>T