Allele Registry

Canonical Allele Identifier: PA2826213394

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000003884

RCV000161992

RCV000587718

RCV000825622

RCV002399309

ClinVar Variation:

3696

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Val482Met	CA023525 NM_001195799.2:c.1444G>A