Canonical Allele Identifier: PA2826214093
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2851350
ClinVar RCV Id: RCV003742188

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Trp769Cys
CA404098675
NM_001195799.2:c.2307G>C
CA404098681
NM_001195799.2:c.2307G>T