ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916012399
Gene: BMPR1A
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_004320.2:p.Arg244Gly
NM_004329.3:c.730C>G