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
NP_001182729.1:p.Ile187_Asp188insGluGluCysGlnAspPro
CA10585289
NM_001195800.2:c.564delinsAGAGTGTCAGGATCCCGAC
CA2580096382
NM_001195800.2:c.563_564insAGAGTGTCAGGATCCCGA