ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111676
Gene: BMPR2
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001195.2:p.Arg491Gln
NM_001204.7:c.1472G>A