Canonical Allele Identifier: PA2580170227
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1771687
ClinVar RCV Id: RCV002389164

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Thr467Tyr
CA2580096438
NM_001195798.2:c.1399_1400delinsTA