Canonical Allele Identifier: PA2825179703
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2193196
ClinVar RCV Id: RCV002643933
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ala480Ser
CA404086034
NM_000527.5:c.1438G>T