Canonical Allele Identifier: PA100259
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251225

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys148Tyr
CA10584921
NM_000527.5:c.443G>A