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
ENSP00000397829.2:p.[Asp483_Asn489delinsGluTyrGlySer;Thr491Pro;Arg494_Cys499delinsHisProAlaLysArgSer;Arg501_Thr503del;Ser505_Leu512delinsVal]
CA2695228166
ENST00000455727.6:c.1448_1449insG