Allele Registry

Canonical Allele Identifier: PA100848

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237982

ClinVar Variation:

251812

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Thr454Asn	CA10585425 NM_000527.5:c.1361C>A