Canonical Allele Identifier: PA2825208486
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2773497
ClinVar RCV Id: RCV003582097

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Val127Ala
CA404076325
NM_000527.5:c.380T>C