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: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526312.1:p.[Cys63Val;Ser65_Ser70delinsValCysHisLeuGlnIleArg;Asp72_Cys75delinsLeuGlnLeuTrp;Gly77_Gly91delinsProCysGlnProLeuHisSerSerValLeuGluValArgTrpPro]
CA10584776
XM_011528010.2:c.185_186insT