Canonical Allele Identifier: PA645376730
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251347

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys216Phe
CA10585036
NM_000527.5:c.647G>T