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.[Ser531_Arg533delinsTrpProPro;Tyr535_Lys540del;His542_Asn550del;Gly552_Asp560del]
CA2582475118
ENST00000535915.5:c.1591_1592del