Allele Registry

Canonical Allele Identifier: PA100827

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000003871

RCV000161958

RCV000588687

RCV002345224

ClinVar Variation:

3686

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Ser177Leu	CA023715 NM_000527.5:c.530C>T