Allele Registry

Canonical Allele Identifier: PA916001383

Gene: LDLR HGNC NCBI

ClinVar Allele:

18743

ClinVar RCV:

RCV000003893

RCV000162025

RCV002426485

RCV002512729

ClinVar Variation:

3704

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Tyr828Cys	CA023679 NM_001195798.2:c.2483A>G