Canonical Allele Identifier: PA916023348
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535893
ClinVar RCV Id: RCV000644115 RCV002424464
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Tyr347Cys
CA027968
NM_001318832.2:c.1040A>G