Allele Registry

Canonical Allele Identifier: PA2826216670

Gene: LDLR HGNC NCBI

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000237729

RCV000238274

RCV000494596

RCV000791422

RCV000844741

RCV001699172

RCV001857827

RCV002379064

ClinVar Variation:

251792

251793

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Trp316Cys	CA10585409 NM_001195803.2:c.948G>C CA10585410 NM_001195803.2:c.948G>T