Canonical Allele Identifier: PA2826212493
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1755040
ClinVar RCV Id: RCV002367202
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp183His
CA404078381
NM_001195799.2:c.547G>C