Allele Registry

Canonical Allele Identifier: PA2826214476

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238400

ClinVar Variation:

251494

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Ile122Ser	CA10585166 NM_001195800.2:c.365T>G