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
ENSP00000252444.6:p.[Asp225_Glu226delinsArgProPro;Ser228Arg;Cys229_Pro230insSer;Leu232_Gly235delinsValPro;Phe239_Asn242del;Ser244Ala;Cys246_Ile247delinsAlaPro;Gln249_Ala252delinsAlaSerProSer;Asp254_Asn255delinsGlyProAlaThr]
CA2582473459
ENST00000252444.10:c.672_675del