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_001182728.1:p.[Arg83_Phe85delinsProAla;Cys87_Asp90del;Asp92_Cys93del;Asp95_Phe112del]
CA10654843
NM_001195799.2:c.247dup