Canonical Allele Identifier: PA913195398
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 633288
ClinVar RCV Id: RCV000781497
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Pro692Arg
CA404093800
NM_000527.5:c.2075C>G