Allele Registry

Canonical Allele Identifier: PA2826214671

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237443

RCV002411081

ClinVar Variation:

251617

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Cys184Ser	CA10585267 NM_001195800.2:c.550T>A CA404082898 NM_001195800.2:c.551G>C