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Canonical Allele Identifier: Get Identifier
Gene: COL7A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011531641.1:p.[Gly2073_Gly2076delinsArgThrGlyArg;Gly2079_Gly2082delinsArgThrTrp;Asp2084Thr;Pro2086_Gly2091delinsGlnArgTrpProSerTrp;Gly2094_Pro2095delinsTrpAsn;Gly2097delinsTrpAla;Pro2098_Pro2099insArgThr;Gly2100Trp;Lys2102Gln]
CA2577588368
XM_011533339.1:c.6210_6216dup