Allele Registry

Canonical Allele Identifier: PA916000830

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237722

RCV002461042

RCV003235162

ClinVar Variation:

252120

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Ser648Pro	CA10585687 NM_001195798.2:c.1942T>C