Canonical Allele Identifier: PA645510840
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440632
ClinVar RCV Id: RCV000508741
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ala399Ser
CA404084667
NM_000527.5:c.1195G>T