Allele Registry

Canonical Allele Identifier: PA2826217282

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000030134

RCV000162011

RCV000247593

RCV000771082

RCV002426526

ClinVar Variation:

36461

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Thr548Ile	CA023649 NM_001195803.2:c.1643C>T