Allele Registry

Canonical Allele Identifier: PA2826215155

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238265

RCV000996755

RCV001183444

ClinVar Variation:

251895

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Lys350Arg	CA10585500 NM_001195800.2:c.1049A>G