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.[Asn407_Asp417delinsThrThrAlaAlaValProThrSerAlaMetThr;Lys419_Cys426delinsArgSerAlaThrSerAlaCysAla;Asp428_Arg436delinsThrAlaSerSerTrpTrpProSerGlu]
CA645509273
ENST00000252444.10:c.1220del