Canonical Allele Identifier: PA2826211537
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251196

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ser130Thr
CA10584895
NM_001195798.2:c.388T>A