Canonical Allele Identifier: PA2826217067
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_001182732.1:p.Gly466del
CA10576319
NM_001195803.2:c.1395_1397del
CA916081226
NM_001195803.2:c.1392_1395delinsT