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
ENSP00000440520.1:p.[Arg703_Val705delinsAspLeuPhe;Asp707del;Ser709_Leu711delinsPro;Ala714_Pro716delinsCysLeu;Leu718_Met726delinsProProLeuGly;His728_Gly732delinsProArgTrpArg]
CA10585811
ENST00000535915.5:c.2107del