Canonical Allele Identifier: PA2827004870
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49317
ClinVar RCV Id: RCV000042577 RCV000545050 RCV001022958 RCV001697037
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Thr1473Met
CA020954
NM_001318827.2:c.4418C>T