Canonical Allele Identifier: PA2826211748
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3072636
ClinVar RCV Id: RCV004013658

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ala394Val
CA032411
NM_001195798.2:c.1181C>T