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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: COL1A2
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000297268.6:p.Gly283del
ENST00000297268.11:c.848_850del
ENST00000297268.11:c.[848_850del;852A=]
ENST00000297268.11:c.[848_850del;852A>G]
