Allele Registry

Canonical Allele Identifier: PA2826213404

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000161994

RCV000238217

RCV000775072

RCV002399589

RCV004017445

ClinVar Variation:

183120

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Pro485Ser	CA023533 NM_001195799.2:c.1453C>T