Canonical Allele Identifier: PA2826215487
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226379
ClinVar RCV Id: RCV000211568 RCV000486101 RCV000826210 RCV000590441 RCV002408918 RCV003407739
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Arg465Cys
CA10576325
NM_001195800.2:c.1393C>T