Canonical Allele Identifier: PA1139686384
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 979144
ClinVar RCV Id: RCV001258218

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Leu815His
CA404098819
NM_001195798.2:c.2444T>A