Allele Registry

Canonical Allele Identifier: PA2826211513

Gene: LDLR HGNC NCBI

ClinVar Allele:

245523

ClinVar RCV:

RCV000238243

RCV000455754

RCV001833251

ClinVar Variation:

251185

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Arg124Trp	CA10584884 NM_001195798.2:c.370C>T