Canonical Allele Identifier: PA2826214890
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251756

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Tyr251His
CA10585378
NM_001195800.2:c.751T>C