Canonical Allele Identifier: PA2499241811
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 996231

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Asp47Tyr
CA404074852
NM_001195803.2:c.139G>T