Canonical Allele Identifier: PA2825181548
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2773530
ClinVar RCV Id: RCV003582129

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ser846del
CA631770049
NM_000527.5:c.2536_2538del