ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573181002
Gene: BMPR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1686508
ClinVar RCV Id:
RCV002247021
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001195.2:p.Val341Met
CA2061276
NM_001204.7:c.1021G>A