ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829516719
Gene: BMPR1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002815204
RCV003475426
ClinVar Variation:
1999160
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004320.2:p.Arg494Gly
CA377463681
NM_004329.3:c.1480C>G