ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828329004
Gene: RUNX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196302
ClinVar RCV Id:
RCV000193162
RCV000723609
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356334.1:p.Gln51_Gln57del
CA206465
NM_001369405.1:c.151_171del