Canonical Allele Identifier: PA2825574528
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 318322
ClinVar RCV Id: RCV000307485 RCV000687605 RCV002487404 RCV002450875 RCV003469253
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Cys791Phe
CA038816
NM_001114382.3:c.2372G>T