Canonical Allele Identifier: PA1139697824
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 927670

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Gln254Glu
CA029271
NM_001195798.2:c.760C>G