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Canonical Allele Identifier: Get Identifier
Gene: COL7A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011531640.1:p.[Gly2097Arg;Lys2102_Gly2111delinsProAspProLeuAlaProArgCysLeuTrpMetSerGlnVal;Leu2112_Ser2113insAsp;Gly2114Leu;Gln2116_Pro2118delinsAsnArgAsp;Gly2120_Gly2126delinsLeuAspSerArgValLeuArg]
CA2702732608
XM_011533338.1:c.6288_6289insCGCCCCCCCGGCCCCCC