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
ENSP00000440520.1:p.[Trp402_Ile410del;Ser412_Gln414del;Asp416_Asp425del;Val427_Ser429delinsCysPro;Asp431_Ile432delinsGlu]
CA2573050597
ENST00000535915.5:c.1206del