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.[Gly305del;Asp307_Cys322del;Pro324_Phe327delinsLeu;Cys329_Asp331del;Asn333_Cys334delinsGlnIle]
CA2695223207
ENST00000252444.10:c.912_913del