Canonical Allele Identifier: PA2826213943
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 927977
ClinVar RCV Id: RCV001191575 RCV004010525
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Val686Ile
CA039072
NM_001195799.2:c.2056G>A