Canonical Allele Identifier: PA2826216399
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431519
ClinVar RCV Id: RCV000497231
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Glu230Gln
CA404083133
NM_001195803.2:c.688G>C