Canonical Allele Identifier: PA916000732
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252061
ClinVar RCV Id: RCV000238571

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Phe614Ile
CA10585641
NM_001195798.2:c.1840T>A