ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573233587
Gene: BMPR1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1471161
ClinVar RCV Id:
RCV001966645
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004320.2:p.Lys115Phe
CA2573145685
NM_004329.3:c.343_345delinsTTT