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Canonical Allele Identifier: Get Identifier
Gene: COL6A2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000387115.1:p.[His667_Glu668delinsProAla;Thr670_Gln675delinsArgArgThrTyrArg;Asp677_Asp678delinsProVal;Arg680_Ala690delinsLeuGlnGlyGlyCysGlnGluProArg;Lys692_Ala698delinsAspCys;Gly700_Thr703delinsArgHisLeuAsp]
CA2392507582
ENST00000409416.6:c.1998_2020del