Canonical Allele Identifier: PA2826213992
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2048978
ClinVar RCV Id: RCV002932158
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Gly717Val
CA039316
NM_001195799.2:c.2150G>T