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_001182727.1:p.[Asp217_Gly219delinsValTrpTrp;Asp221_Cys236del;Pro238_Phe241delinsLeuGlnGly;Cys243_Gly246delinsIle]
CA10585039
NM_001195798.2:c.649_650insT