Canonical Allele Identifier: PA915999893
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251756

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Tyr419His
CA10585378
NM_001195798.2:c.1255T>C