Canonical Allele Identifier: PA100421
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226338
ClinVar RCV Id: RCV000211591 RCV000493281 RCV001804946 RCV003407738 RCV002372216
ClinVar Variation Id: 226339
ClinVar RCV Id: RCV000211642 RCV000826175 RCV002223822 RCV002229197
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys313Tyr
CA10576292
NM_000527.5:c.938G>A
CA10576293
NM_000527.5:c.938_939delinsAT