Canonical Allele Identifier: PA916000809
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252112
ClinVar RCV Id: RCV000237504
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Val639Gly
CA10585680
NM_001195798.2:c.1916T>G