Canonical Allele Identifier: PA2828417505
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1775001
ClinVar RCV Id: RCV002403325
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Glu517Gln
CA394326424
NM_001370405.1:c.1549G>C