Canonical Allele Identifier: PA2826215493
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252108
ClinVar RCV Id: RCV000237907

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Thr467Ile
CA10585678
NM_001195800.2:c.1400C>T