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Canonical Allele Identifier: Get Identifier
Gene: COL7A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011531643.1:p.[Gly2088_Pro2093delinsAspSerLeuGluProLeu;Gly2097Asp;Pro2099_Gly2100delinsLeuAla;Lys2102_Leu2112delinsArgCysLeuTrpMetSerGlnValLeuAsp;Gly2114Leu;Gln2116_Gly2117delinsAsnArgAsp]
CA2577588359
XM_011533341.1:c.6263del