Canonical Allele Identifier: PA2827004650
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1021319
ClinVar RCV Id: RCV001321059 RCV001760405 RCV002341657
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Pro1414Ala
CA394302993
NM_001318827.2:c.4240C>G