Canonical Allele Identifier: PA2825181426
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1791406
ClinVar RCV Id: RCV002455408
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Lys816Arg
CA404098866
NM_000527.5:c.2447A>G