Allele Registry

Canonical Allele Identifier: PA915999478

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237443

RCV002411081

ClinVar Variation:

251617

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Cys352Ser	CA10585267 NM_001195798.2:c.1054T>A CA404082898 NM_001195798.2:c.1055G>C