Canonical Allele Identifier: PA260391
Gene: COL1A2 HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000080.2:p.Gly283del
NM_000089.4:c.848_850del

NM_000089.4:c.[848_850del;852A=]

NM_000089.4:c.[848_850del;852A>G]