Allele Registry

Canonical Allele Identifier: PA645378452

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237806

RCV001368837

RCV002379062

ClinVar Variation:

251786

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Tyr442His	CA10585403 NM_000527.5:c.1324T>C