Canonical Allele Identifier: PA2826212437
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1753007
ClinVar RCV Id: RCV002368981
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Trp173_Arg174insProSerTrp
CA2580096467
NM_001195799.2:c.512_520dup