Canonical Allele Identifier: PA2825208496
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1491802
ClinVar RCV Id: RCV001988908

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Arg132Trp
CA043402
NM_000527.5:c.394C>T