ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580170066
Gene: BMPR2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001195.2:p.Thr993Ile
CA350350507
NM_001204.7:c.2978C>T