Canonical Allele Identifier: PA2826214032
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252290
ClinVar RCV Id: RCV000237385 RCV001524620
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Glu740Asp
CA039894
NM_001195799.2:c.2220G>T
CA404096750
NM_001195799.2:c.2220G>C