ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828329001
Gene: RUNX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1444467
ClinVar RCV Id:
RCV001955910
ClinVar Variation Id:
2721787
ClinVar RCV Id:
RCV003556600
ClinVar Variation Id:
2820432
ClinVar RCV Id:
RCV003709179
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356334.1:p.Gln49_Gln57dup
CA2678964966
NM_001369405.1:c.145_171dup