Canonical Allele Identifier: PA2826216187
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1764981
ClinVar RCV Id: RCV002375991 RCV003100047
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Cys169Trp
CA404080941
NM_001195803.2:c.507C>G