Canonical Allele Identifier: PA2826216594
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251756

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Tyr292His
CA10585378
NM_001195803.2:c.874T>C