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.[Ile582_Ile587delinsHisGlnArgSerHis;Ser589_Asn599delinsGlnCysGlnProProHisArgPheArgCysGln;Leu601_Met611delinsValGly]
CA10585666
ENST00000535915.5:c.1744_1745del