ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645438417
Gene: BMPR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
333642
ClinVar RCV Id:
RCV000359111
RCV001507145
RCV001660694
RCV002287893
RCV003993932
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001195.2:p.Val348Ile
CA2061283
NM_001204.7:c.1042G>A