Canonical Allele Identifier: PA2826215931
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2773530
ClinVar RCV Id: RCV003582129

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Ser678del
CA631770049
NM_001195800.2:c.2032_2034del