Canonical Allele Identifier: PA251221
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 189297
ClinVar RCV Id: RCV000172960 RCV001190239 RCV003398872
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Val271Ile
CA023769
NM_000527.5:c.811G>A