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.[Trp752del;Glu754Val;Thr756_Asn760del;Gly762_Leu768del;Ala770del;Gln772_Cys782del]
CA10585720
ENST00000252444.10:c.2256del