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
ENSP00000252444.6:p.[Asp122Val;Lys124_Lys129delinsLeuArg;Val131_Cys138del;Asp140_Phe159delinsArg]
CA9204945
ENST00000252444.10:c.365_387del