Allele Registry

Canonical Allele Identifier: PA2826214962

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237806

RCV001368837

RCV002379062

ClinVar Variation:

251786

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Tyr274His	CA10585403 NM_001195800.2:c.820T>C