Canonical Allele Identifier: PA2825178214
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 977998
ClinVar RCV Id: RCV001255954
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys284del
CA1139666260
NM_000527.5:c.850_852del