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Canonical Allele Identifier: Get Identifier
Gene: COL7A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011531641.1:p.[Gly2018_Gln2023delinsGluThrLeuAlaLeuArg;Pro2025_Ala2029delinsHisLeuValTrpPro;Glu2032del;Gly2034_Pro2035insAla;Pro2038_Gly2040delinsLeuProAla;Ala2042Pro;Glu2044_Lys2047delinsSerLeuGluSer]
CA2665619548
XM_011533339.1:c.6053del