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
ENSP00000387115.1:p.[Phe671_Glu672delinsHisPro;Ile674_Ser683delinsGlyArgArgThrTyrArgLeuProValGlu;Ser685_Trp702delinsGlnGlyGlyCysGlnGluProArgValAspCysGlyArgHisLeuAsp]
CA638497894
ENST00000409416.6:c.2011_2018del