Canonical Allele Identifier: PA2826211490
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251170
ClinVar RCV Id: RCV000237310
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp118_Gly119delinsGlu
CA10584869
NM_001195798.2:c.354_356del