Canonical Allele Identifier: PA916001161
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430797
ClinVar RCV Id: RCV000495862
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Gly754Trp
CA039272
NM_001195798.2:c.2260G>T