Canonical Allele Identifier: PA2825208491
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2099142
ClinVar RCV Id: RCV003021566
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp129Ala
CA404076334
NM_000527.5:c.386A>C