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
ENSP00000397829.2:p.[Pro493_Glu500delinsHisThrGlnHisLys;Thr502_Leu504del;Asn506_Tyr511delinsGlu;Cys513_His522delinsVal]
CA2813590029
ENST00000455727.6:c.1477_1478insACACCCAACA