Canonical Allele Identifier: PA645378448
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251782
ClinVar RCV Id: RCV000238500
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ile441Asn
CA10585399
NM_000527.5:c.1322T>A