Canonical Allele Identifier: PA2826213281
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 420052

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ala439Val
CA16620738
NM_001195799.2:c.1316C>T