Canonical Allele Identifier: PA915998817
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251394

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Glu228Ala
CA10585081
NM_001195798.2:c.683A>C