ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645438411
Gene: BMPR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
425864
ClinVar RCV Id:
RCV000488813
RCV001003705
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001195.2:p.Leu340Pro
CA350341382
NM_001204.7:c.1019T>C