Canonical Allele Identifier: PA916000575
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252005
ClinVar RCV Id: RCV000238291

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Val578dup
CA10585589
NM_001195798.2:c.1735_1736insTCG