Canonical Allele Identifier: PA645380659
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252293
ClinVar RCV Id: RCV000237632
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Arg788Ser
CA10585832
NM_000527.5:c.2364G>T
CA404096840
NM_000527.5:c.2364G>C