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
ENSP00000453557.1:p.[Val500_Thr510del;Phe512del;Glu514_Lys518delinsIle;Ile522_Gly529del]
CA2695228116
ENST00000557933.5:c.1498del