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: COL5A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Gly1838_Ter1839insSerGluProProSerProGlySerArgGluGlnProArgAspLeuSerMetProPheValArgGluCysProValHisValLeuThrLeuAspSerGluGlyPheSerLeuProSerHisLeuThrSerSerThrProArgHisHisGlyValTrpAspProSerProGluArgThrGluGlyArgSerArgAlaProThrTrpSer
CA375462190
NM_001278074.1:c.5516A>C