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
NP_001182732.1:p.[Phe276_Met285delinsSerProThrGly;Leu287_Asp288del;Glu291_Leu299delinsGly;Asn301_Leu305del]
CA10585357
NM_001195803.2:c.827del
CA2695228162
NM_001195803.2:c.825del