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
ENSP00000453346.1:p.[Asn316_Asp331delinsThrAsnAlaTrpThrThrThrAlaAlaValProThrSerAlaMetThr;Lys333_Cys340delinsArgSerAlaThrSerAlaCysAla;Asp342_Gln345delinsThrAlaSer]
CA2695228135
ENST00000558013.5:c.945del