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_001182729.1:p.[Trp275_Ile283del;Ser285_Gln287del;Asp289_Asp298del;Val300_Ser302delinsCysPro;Asp304_Ile305delinsGlu]
CA2573050597
NM_001195800.2:c.825del