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.[Val459_Thr469del;Phe471del;Glu473_Lys477delinsIle;Ile481_Gly488del]
CA2695228116
ENST00000535915.5:c.1375del