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_000518.1:p.[Ala521_His528delinsHisArgGly;Phe530_Tyr532delinsSerCysSer;Thr534_Gly546delinsLeuHisVal;Asn548_Val550delinsAsp]
CA2573050604
NM_000527.5:c.1561_1562del