Canonical Allele Identifier: PA2826215306
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251996

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Arg406His
CA036197
NM_001195800.2:c.1217G>A