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Canonical Allele Identifier: Get Identifier
Gene: COL7A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016861179.1:p.[Gln2014_Leu2021delinsArgAlaThrTrpSerGlyProTrp;Arg2024del;Gly2028_Gly2037delinsArgAlaPheArgProCysArgGlyAlaTrp;Pro2039_Leu2044delinsAlaTrpTyrSerArgAla]
CA1363082826
XM_017005690.1:c.6041_6042del