ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645438476
Gene: BMPR2
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001195.2:p.Trp466Ter
NM_001204.7:c.[1392del;1394C>G;1397G>T]
NM_001204.7:c.1397G>A
NM_001204.7:c.1398G>A