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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.[Val1447Cys;Ala1449_Phe1454delinsProLeuGlyArgTrpCysProArgPro;Phe1456_Gly1459delinsIleArgLeuArgArgTrp;Pro1460_Val1461insCysLeuLeuPro;Cys1462_Phe1463delinsAsnSer;Leu1464_Ter1465insHisProAsnLeuAlaProSerHis]
CA2695226413
ENST00000225964.9:c.4323_4338dup