Canonical Allele Identifier: PA2826213588
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226373
ClinVar RCV Id: RCV000211702
ClinVar Variation Id: 843511
ClinVar RCV Id: RCV001046157

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Gly552del
CA10576319
NM_001195799.2:c.1653_1655del
CA916081226
NM_001195799.2:c.1650_1653delinsT