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Canonical Allele Identifier: Get Identifier
Gene: COL7A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.[Gly2088_Pro2089delinsProAsp;Gly2091_Leu2103delinsLeuAlaProArgCysLeuTrpMetSerGlnValLeuAsp;Gly2105Leu;Gln2107_Pro2109delinsAsnArgAsp;Gly2111_Gly2117delinsLeuAspSerArgValLeuArg]
CA2756157642
NM_000094.4:c.6260_6261dup