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
ENSP00000453696.2:p.[Asn156_Ile161delinsGluAlaProProAlaSer;Gln163_Asp170delinsSerCysGlyProAlaThrThrThr;Asp172_Arg185delinsThrAlaLysMetAlaArgMetSerGlyArgSerAlaVal]
CA2497030117
ENST00000559340.2:c.466_468delinsGA