Canonical Allele Identifier: PA2825179532
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1120246

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ser444Phe
CA404085252
NM_000527.5:c.1331C>T