Canonical Allele Identifier: PA645379349
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430783

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Val578Ala
CA036312
NM_000527.5:c.1733T>C