Canonical Allele Identifier: PA913195360
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 628891
ClinVar RCV Id: RCV000773556 RCV004000021
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Val653Ile
CA404093185
NM_000527.5:c.1957G>A