Canonical Allele Identifier: PA100233
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251205
ClinVar RCV Id: RCV000237740

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys134Trp
CA10584904
NM_000527.5:c.402C>G