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
ENSP00000453696.2:p.[Lys69_Ser70delinsAsnPro;Asp72_Phe73delinsThr;Cys75_Gly76delinsAlaVal;Arg78Ala;Asn80_Ser99delinsSerThrAlaAlaPheLeuSerSerGlyGlyAlaMetAlaLysTrpThrAlaThrThrAla]
CA2695238652
ENST00000559340.2:c.207del