Canonical Allele Identifier: PA2826216155
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1066036
ClinVar RCV Id: RCV001376931 RCV002413905
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Cys157Phe
CA404080659
NM_001195803.2:c.470G>T