Canonical Allele Identifier: PA645380249
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252208
ClinVar RCV Id: RCV000238052
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Phe694Val
CA10585762
NM_000527.5:c.2080T>G