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Canonical Allele Identifier: Get Identifier
Gene: COL7A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000506558.1:p.[Gly2088Arg;Lys2093_Gly2102delinsProAspProLeuAlaProArgCysLeuTrpMetSerGlnVal;Leu2103_Ser2104insAsp;Gly2105Leu;Gln2107_Pro2109delinsAsnArgAsp;Gly2111_Gly2117delinsLeuAspSerArgValLeuArg]
CA2702732608
ENST00000681320.1:c.6261_6262insCGCCCCCCCGGCCCCCC