Canonical Allele Identifier: PA645438433
Gene: BMPR2 HGNC NCBI
ClinVar RCV:
RCV000488703
ClinVar Variation:
425889
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001195.2:p.Val392Ala
CA350341779
NM_001204.7:c.1175T>C