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.[Ala481_His488delinsHisArgGly;Phe490_Tyr492delinsSerCysSer;Thr494_Gly506delinsLeuHisVal;Asn508_Val510delinsAsp]
CA2573050604
ENST00000560467.2:c.1441_1442del