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.[Asp186del;Glu188_Cys195delinsGlyLysLeu;Pro197_Gln201del;Ser203_Asp204del;Asn206_Ile208del;Gly210Leu;Arg212_Arg216delinsPro]
CA2695223213
NM_001195799.2:c.558_559del