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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.[Gly130_Leu140delinsAlaGluMetAlaSerLeuAspSerLeuAspPhe;Gly142Asp;Gly145Asp;Gly148_Pro149delinsAspLeu;Gly151Asp;Pro153_Phe159delinsLeuAlaSerGluGluThr]
CA658656726
XM_005257059.4:c.387del