Canonical Allele Identifier: PA235448
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183118
ClinVar RCV Id: RCV000161991

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gly516Asp
CA023522
NM_000527.5:c.1547G>A