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.[Asp313del;Glu315_Cys322delinsGlyLysLeu;Pro324_Gln328del;Ser330_Asp331del;Asn333_Ile335del;Gly337Leu;Arg339_Arg343delinsPro]
CA2695223213
ENST00000252444.10:c.939_940del