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Canonical Allele Identifier: Get Identifier
Gene: COL7A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000506558.1:p.[Gly2082_Pro2084delinsGluProLeu;Gly2088Asp;Pro2090_Gly2091delinsLeuAla;Lys2093_Leu2103delinsArgCysLeuTrpMetSerGlnValLeuAsp;Gly2105Leu;Gln2107_Pro2109delinsAsnArgAsp;Gly2111delinsLeuAsp]
CA1139658057
ENST00000681320.1:c.6245del