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Canonical Allele Identifier: Get Identifier
Gene: COL7A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016861181.1:p.[Ile540_Gln545delinsMetCysAlaAlaProArg;Val547_Pro554delinsLeuSerGlyProTrpCysPheLeu;Ser556_Ala567delinsValArgGlnHisSerThrTrpMetThrPheArgLeu;Ser570del]
CA2665623932
XM_017005692.1:c.1620del