Allele Registry

Canonical Allele Identifier: PA645380354

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237572

RCV000521276

RCV001258046

ClinVar Variation:

252227

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Asp707Val	CA10585780 NM_000527.5:c.2120A>T