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
XP_011526313.1:p.[Pro534_Glu541delinsHisThrGlnHisLys;Thr543_Leu545del;Asn547_Tyr552delinsGlu;Cys554_His563delinsVal]
CA2813590029
XM_011528011.1:c.1600_1601insACACCCAACA