Canonical Allele Identifier: PA2580169861
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2125439
ClinVar RCV Id: RCV003043620
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Lys225Phe
CA2580096492
NM_001195798.2:c.673_675delinsTTT