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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.[Leu2314_Ala2317delinsArgSer;Glu2320_Lys2321delinsArgGlu;Ala2323Ser;Gly2325_Glu2334delinsTrpArgProCysTrpArg;Ala2337_Pro2344del]
CA916888237
XM_011533341.1:c.6941_6945del