Canonical Allele Identifier: PA2827011235
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50162
ClinVar RCV Id: RCV000043430 RCV000473316
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Tyr549Cys
CA015795
NM_001318829.2:c.1646A>G