Canonical Allele Identifier: PA645376779
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251358
ClinVar RCV Id: RCV000238041 RCV000586459 RCV002365241 RCV003327389
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp221_Asp227dup
CA10585050
NM_000527.5:c.663_683dup