This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: COL6A2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011527754.1:p.[Asp678_Glu679delinsArg;Ile681_Ser683delinsThrTyrArg;Ser685_Gly699delinsProValGluLeuGlnGlyGlyCysGlnGluProArgValAspCys;Thr701_Trp702delinsArgHisLeuAsp;Pro704Leu;Ala706Pro]
CA10072417
XM_011529452.1:c.2030_2031insT