Canonical Allele Identifier: PA645376262
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251271
ClinVar RCV Id: RCV000238094 RCV002338786
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp172Glu
CA10584961
NM_000527.5:c.516C>G
CA404076945
NM_000527.5:c.516C>A