Canonical Allele Identifier: PA2741841760
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2681998
ClinVar RCV Id: RCV003477290

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp834His
CA404099494
NM_001195798.2:c.2500G>C