Canonical Allele Identifier: PA916000939
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252165
ClinVar RCV Id: RCV000237926

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys667Phe
CA10585723
NM_001195798.2:c.2000G>T