Canonical Allele Identifier: PA916000857
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183129

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Met652Val
CA023615
NM_001195798.2:c.1954A>G