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
ENSP00000453346.1:p.[His460_Ala475del;Asp477_Leu479del;Val481_Leu495del]
CA10585434
ENST00000558013.5:c.1379_1396delinsCAGCTTA