Canonical Allele Identifier: PA2825208680
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3071186
ClinVar RCV Id: RCV004014688

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Glu229Lys
CA404079090
NM_000527.5:c.685G>A