Allele Registry

Canonical Allele Identifier: PA916001954

Gene: LDLR HGNC NCBI

ClinVar Allele:

245448

ClinVar RCV:

RCV000238573

RCV000494304

RCV000776467

RCV002450742

RCV004017538

ClinVar Variation:

251105

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Asp90Asn	CA042604 NM_001195803.2:c.268G>A