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.[Lys113_Asp125delinsSerSerSerValThrAlaAlaAsnAlaSerProTrpThr;Val127_Glu140delinsSerAlaThrTrpLeuGluThrAlaGlyThrGlyGlnMetAsn;Ile142Ser]
CA2695238669
ENST00000455727.6:c.338del