Canonical Allele Identifier: PA916000141
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251844
ClinVar RCV Id: RCV000238303

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp482His
CA10585454
NM_001195798.2:c.1444G>C