Canonical Allele Identifier: PA2825179831
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 977992
ClinVar RCV Id: RCV001255948
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ala501Thr
CA404086451
NM_000527.5:c.1501G>A