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
ENSP00000437639.1:p.[Pro392_His401delinsHisThrGlnHisLysGlyHisArgGly;Phe403_Tyr405delinsSerCysSer;Thr407_Gly419delinsLeuHisVal;Asn421Asp]
CA2813598417
ENST00000545707.5:c.1174_1175insACACCCAACA