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.[Ala394_His401delinsHisArgGly;Phe403_Tyr405delinsSerCysSer;Thr407_Gly419delinsLeuHisVal;Asn421_Val423delinsAsp]
CA2573050604
ENST00000545707.5:c.1180_1181del