Canonical Allele Identifier: PA916000748
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252085
ClinVar RCV Id: RCV000238087

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Phe619Cys
CA10585656
NM_001195798.2:c.1856T>G