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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.[Lys2093_Leu2103delinsArgCysLeuTrpMetSerGlnValLeuAsp;Gly2105Leu;Gln2107_Pro2109delinsAsnArgAsp;Gly2111del;Lys2113_Pro2119delinsAspSerArgValLeuArg;Asn2122delinsArgAlaAla]
CA2577588349
ENST00000681320.1:c.6276del