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
ENSP00000312529.5:p.[Asp621_Asn643delinsGlyArgGlyLeuArgHisArgGlnLeuArgGluHisTrpValHisGlnLeuHisThrGlyGluGluLeu;Leu645delinsHisGlnArg;Ala647_Ile648delinsGlnGln;Lys650delinsGlyCysHisArg]
CA513170594
ENST00000310645.9:c.1843_1861dup