Canonical Allele Identifier: PA2825179539
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2453914
ClinVar RCV Id: RCV003188049

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp445Tyr
CA404085259
NM_000527.5:c.1333G>T