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
ENSP00000252444.6:p.[Pro747_Glu754delinsHisThrGlnHisLys;Thr756_Leu758del;Asn760_Tyr765delinsGlu;Cys767_His776delinsVal]
CA2813590029
ENST00000252444.10:c.2239_2240insACACCCAACA