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
ENSP00000453513.2:p.[Asn777_Gln789del;Thr791_Thr792del;Asp794_Val796del;Ile798_Cys799delinsGlnGln;Asn801del;Asp803_Ser806delinsLeu]
CA023673
ENST00000560467.2:c.2327_2330dup