Canonical Allele Identifier: PA2825179545
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2795606
ClinVar RCV Id: RCV003741530

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ser447Phe
CA404085305
NM_000527.5:c.1340C>T