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.[Pro162_Trp165delinsCysGlyPro;Cys167_Asp170delinsThrThrThr;Asp172_Gln191delinsThrAlaLysMetAlaArgMetSerGlyArgSerAlaValGlyValPheThrCysSerLys;Asp193Thr]
CA2573050573
ENST00000560467.2:c.484_490del