Allele Registry

Canonical Allele Identifier: PA916000048

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237982

ClinVar Variation:

251812

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Thr454Asn	CA10585425 NM_001195798.2:c.1361C>A