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_001182728.1:p.[Asp610_Asn616delinsGluTyrGlySer;Thr618Pro;Arg621_Cys626delinsHisProAlaLysArgSer;Arg628_Thr630del;Ser632_Leu639delinsVal]
CA2695228166
NM_001195799.2:c.1829_1830insG