Allele Registry

Canonical Allele Identifier: PA2826213130

Gene: LDLR HGNC NCBI

ClinVar Allele:

246077

ClinVar RCV:

RCV000237865

RCV001350143

RCV002446478

ClinVar Variation:

251763

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Leu385Pro	CA10585383 NM_001195799.2:c.1154T>C