Canonical Allele Identifier: PA250484
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3733
ClinVar RCV Id: RCV000003931 RCV001201377 RCV003457636
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys222_Asp227dup
CA250482
NM_000527.5:c.664_681dup