Canonical Allele Identifier: PA658654837
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 441184
ClinVar RCV Id: RCV000509240

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys121_Gln125del
CA658653698
NM_000527.5:c.362_376del