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
ENSP00000453513.2:p.[Pro479_His488delinsHisThrGlnHisLysGlyHisArgGly;Phe490_Tyr492delinsSerCysSer;Thr494_Gly506delinsLeuHisVal;Asn508Asp]
CA2813598417
ENST00000560467.2:c.1435_1436insACACCCAACA