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.[Leu758_Cys767delinsArgAlaMetAlaAlaAlaSerIleCysAlaSer;Ala770_Asn774delinsArgArgSerThr;His776_Ser777delinsThrArg;Lys779_Gly787delinsSerLeuProAlaProAlaArgThrAla]
CA10585730
ENST00000252444.10:c.2273del