Canonical Allele Identifier: PA916000775
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252105
ClinVar RCV Id: RCV000237832 RCV001854908
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Phe629Cys
CA10585674
NM_001195798.2:c.1886T>G