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.[Asp47_Asp54delinsValPro;Ser56_Cys63delinsTrp;Ser65_Arg81del]
CA658653854
ENST00000558013.5:c.140_153del