Canonical Allele Identifier: PA2826212463
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440589
ClinVar RCV Id: RCV000508831 RCV003236668
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Pro179_Asp180del
CA645509262
NM_001195799.2:c.535_540del