Canonical Allele Identifier: PA2825179130
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2845363
ClinVar RCV Id: RCV003742105
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ala391Pro
CA404083899
NM_000527.5:c.1171G>C