Allele Registry

Canonical Allele Identifier: PA916000299

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238265

RCV000996755

RCV001183444

ClinVar Variation:

251895

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Lys518Arg	CA10585500 NM_001195798.2:c.1553A>G