Canonical Allele Identifier: PA916000745
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252083

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Phe619Leu
CA037227
NM_001195798.2:c.1855T>C
CA404092379
NM_001195798.2:c.1857T>A
CA404092381
NM_001195798.2:c.1857T>G