Canonical Allele Identifier: PA2825208662
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2125438
ClinVar RCV Id: RCV003043619

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp224del
CA2580096489
NM_000527.5:c.670_672del