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.[Asn817_Gln829del;Thr831_Thr832del;Asp834_Val836del;Ile838_Cys839delinsGlnGln;Asn841del;Asp843_Ser846delinsLeu]
CA023673
ENST00000558013.5:c.2447_2450dup