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.[Ser403_Asp404del;Ser406_Ile410delinsThr;Ser412_Asp416delinsPro;Ala418_Ile432delinsGlu]
CA16602329
NM_001195799.2:c.1207del