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Canonical Allele Identifier: Get Identifier
Gene: COL1A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000225964.5:p.[Glu1453_Gly1459delinsArgLeuArgArgTrpProCysLeuLeu;Cys1462_Phe1463delinsAsnSer;Leu1464_Ter1465insHisProAsnLeuAlaProSerHisProThrAsnPheProProAsnPro]
CA2695226407
ENST00000225964.9:c.4357_4361del