Canonical Allele Identifier: PA2825208361
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2501630
ClinVar RCV Id: RCV003227425

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ile40Phe
CA404074754
NM_000527.5:c.118A>T