ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913199079
Gene: BMPR1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
630447
ClinVar RCV Id:
RCV000775831
RCV001241562
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004320.2:p.Ser171Phe
CA377450672
NM_004329.3:c.512C>T