Canonical Allele Identifier: PA915998513
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251267

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp172His
CA10584958
NM_001195798.2:c.514G>C