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Canonical Allele Identifier: Get Identifier
Gene: COL1A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005257116.2:p.[Pro313_Gly320delinsLeuGluProLeuAlaLeuLeuVal;Pro321_Ala322insLeu;Gly323Arg;Arg325_Pro330delinsValAsnLysAlaLeuLeu;Gly332_Gly338delinsProProAspSerArgValSer;Pro340_Pro342delinsValLeu]
CA915950619
XM_005257059.4:c.938del