Allele Registry

Canonical Allele Identifier: PA099867

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000211597

RCV001183695

RCV002259322

RCV002399776

ClinVar Variation:

226343

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Arg350Pro	CA10576296 NM_000527.5:c.1049G>C