Canonical Allele Identifier: PA2826215879
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 979144
ClinVar RCV Id: RCV001258218

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Leu647His
CA404098819
NM_001195800.2:c.1940T>A