Canonical Allele Identifier: PA2825179844
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2618913
ClinVar RCV Id: RCV004359677

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gly505Ala
CA404086495
NM_000527.5:c.1514G>C