Allele Registry

Canonical Allele Identifier: PA2826215030

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000161988

RCV000237883

RCV000775068

RCV000844749

RCV002390395

ClinVar Variation:

183116

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Asp304Tyr	CA023492 NM_001195800.2:c.910G>T