ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645438427
Gene: BMPR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000488538
ClinVar Variation:
425885
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001195.2:p.Glu386Ala
CA350341739
NM_001204.7:c.1157A>C