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
NP_001182732.1:p.[Glu190_Asp204delinsAspAlaTrpThrThrThrAlaAlaValProThrSerAlaMetThr;Lys206_Cys213delinsArgSerAlaThrSerAlaCysAla;Asp215_Val220delinsThrAlaSerSerTrp]
CA10585224
NM_001195803.2:c.570del