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
ENSP00000252444.6:p.[Thr233_Pro236delinsProAlaSerSer;Ser238_Asn242delinsThrAlaProProAla;Ser244_Thr245delinsProSer;Ile247Gly;Gln249_Trp251del;Cys253_Asp256delinsThrThrThr;Asp258_Trp266delinsThrAlaLysMetAlaArgMetSerGly]
CA2695223198
ENST00000252444.10:c.697_709del