Allele Registry

Canonical Allele Identifier: PA916000095

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000161988

RCV000237883

RCV000775068

RCV000844749

RCV002390395

ClinVar Variation:

183116

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Asp472Tyr	CA023492 NM_001195798.2:c.1414G>T