Canonical Allele Identifier: PA235422
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183102
ClinVar RCV Id: RCV000161973 RCV000238096 RCV000455406 RCV001185251 RCV002372047
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gly314Arg
CA023795
NM_000527.5:c.940G>A
CA404081088
NM_000527.5:c.940G>C