Canonical Allele Identifier: PA645375699
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 369854
ClinVar RCV Id: RCV000408769 RCV000776496 RCV000786356 RCV002436228 RCV003401381
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp100Val
CA10654841
NM_000527.5:c.299A>T