Canonical Allele Identifier: PA645380745
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252323
ClinVar RCV Id: RCV000237819
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Val800Asp
CA10585852
NM_000527.5:c.2399T>A