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.[Asp98_Glu99delinsArgProPro;Ser101Arg;Cys102_Pro103insSer;Leu105_Gly108delinsValPro;Phe112_Asn115del;Ser117Ala;Cys119_Ile120delinsAlaPro;Gln122_Ala125delinsAlaSerProSer;Asp127_Asn128delinsGlyProAlaThr]
CA2582473459
ENST00000535915.5:c.291_294del