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
ENSP00000453513.2:p.[Asp611_Asn617delinsGluTyrGlySer;Thr619Pro;Arg622_Cys627delinsHisProAlaLysArgSer;Arg629_Thr631del;Ser633_Leu640delinsVal]
CA2695228166
ENST00000560467.2:c.1832_1833insG