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
ENSP00000395751.1:p.[Val153_Asp157delinsMetThrLeu;Ala159_Thr160del;Asp163_Lys166delinsGlnThrVal;Cys168_Gly169delinsSer;Leu171_Asp178delinsValAlaProTrpThrTrpSerSer;Glu181_Ile183delinsThrAlaProArgAlaLeu;Tyr185Thr]
CA10072278
ENST00000413758.1:c.457_466del