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.[Leu273_Ser281del;Cys283_Trp300del;Cys302_Asp303del;Gly305_Pro306delinsGln]
CA1139666250
ENST00000252444.10:c.818_828del