Canonical Allele Identifier: PA645376112
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 369851
ClinVar RCV Id: RCV000408830
ClinVar Variation Id: 920596

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys143Ser
CA10654844
NM_000527.5:c.428G>C
CA404076414
NM_000527.5:c.427T>A