Canonical Allele Identifier: PA645378489
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226354
ClinVar RCV Id: RCV000211635 RCV000497836
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ser444Pro
CA10576304
NM_000527.5:c.1330T>C