Canonical Allele Identifier: PA2826213699
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_001182728.1:p.Phe588Cys
CA10585674
NM_001195799.2:c.1763T>G