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
ENSP00000397829.2:p.[Arg576_Val578delinsAspLeuPhe;Asp580del;Ser582_Leu584delinsPro;Ala587_Pro589delinsCysLeu;Leu591_Met599delinsProProLeuGly;His601_Gly605delinsProArgTrpArg]
CA10585811
ENST00000455727.6:c.1726del