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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.[Lys2102_Leu2112delinsArgCysLeuTrpMetSerGlnValLeuAsp;Gly2114Leu;Gln2116_Pro2118delinsAsnArgAsp;Gly2120del;Lys2122_Pro2128delinsAspSerArgValLeuArg;Asn2131delinsArgAlaAla]
CA2577588349
XM_011533342.1:c.6303del