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.[Cys39_Lys43del;Val45_Cys52delinsHisLeuLeu;Asp54Val;Ser56_Ser59delinsLeuArgTrp;Glu61_Cys68delinsArg]
CA2573155696
XM_011528010.2:c.116dup