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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.[Val1078_Gly1082delinsAlaLeuLeu;Arg1084_Pro1086delinsProVal;Gly1088Pro;Gln1090_Gly1091delinsAsp;Arg1093_Glu1101delinsLysAlaProValValThrArgValArg;Gly1103_Asp1104delinsAlaAsn;Gly1106_Lys1108delinsAlaThrGluAla]
CA645293906
ENST00000225964.9:c.3233_3236del