Canonical Allele Identifier: PA100715
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161267
ClinVar RCV Id: RCV000238417 RCV000255176 RCV000586642 RCV002051660 RCV002345455
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Leu401Val
CA023432
NM_000527.5:c.1201C>G