Canonical Allele Identifier: PA2825208566
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2568146
ClinVar RCV Id: RCV003283512

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp172Ala
CA404076938
NM_000527.5:c.515A>C