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Canonical Allele Identifier: Get Identifier
Gene: COL7A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011531644.1:p.[Gly2091_Pro2093delinsGluProLeu;Gly2097Asp;Pro2099_Gly2100delinsLeuAla;Lys2102_Leu2112delinsArgCysLeuTrpMetSerGlnValLeuAsp;Gly2114Leu;Gln2116_Pro2118delinsAsnArgAsp;Gly2120delinsLeuAsp]
CA1139658057
XM_011533342.1:c.6272del