Canonical Allele Identifier: PA2826212438
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251341
ClinVar RCV Id: RCV000237582
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Trp173_Arg174insHisProLeuSerTrp
CA10585031
NM_001195799.2:c.520_521insATCCACTCAGCTGGC