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) Transcript change
NP_001182728.1:p.Ala350Thr
NM_001195799.2:c.[1044del;1047G>A;1049C>A...

NM_001195799.2:c.1048G>A