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.[Cys513_Leu514delinsProProCys;Pro517Asp;Ile519_Asn520delinsPro;His522_Cys530delinsLeuAlaGlnValTyrLeuArgLeu;Asp532del;Met534_Leu536delinsArgHisAla;Arg538_Ser542delinsGlyGlnGlyHisGluGluLeu]
CA2497030036
ENST00000455727.6:c.1537_1538del