Allele Registry

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

HGVS (amino-acid)	Transcript change
NP_001182729.1:p.Gln518Ter	NM_001195800.2:c.[1551del;1552_1553insT] NM_001195800.2:c.[1551del;1553A>T] NM_001195800.2:c.[1551del;1553A>T;1555A=]... NM_001195800.2:c.[1551del;1553A>T;1555_15... NM_001195800.2:c.1552C>T