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Canonical Allele Identifier: Get Identifier
Gene: COL7A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016861181.1:p.[Gly2064_Gly2067delinsArgThrGlyArg;Gly2070_Gly2073delinsArgThrTrp;Asp2075Thr;Pro2077_Gly2082delinsGlnArgTrpProSerTrp;Gly2085_Pro2086delinsTrpAsn;Gly2088delinsTrpAla;Pro2089_Pro2090insArgThr;Gly2091Trp;Lys2093Gln]
CA2577588368
XM_017005692.1:c.6183_6189dup