Canonical Allele Identifier: PA645380093
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252165
ClinVar RCV Id: RCV000237926

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys667Phe
CA10585723
NM_000527.5:c.2000G>T