Canonical Allele Identifier: PA2828094122
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406008
ClinVar RCV Id: RCV000593021 RCV000572627 RCV001086896
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Asp1340Tyr
CA050670
NM_001363528.2:c.4018G>T