Canonical Allele Identifier: PA2828409814
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2061346
ClinVar RCV Id: RCV002939023
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ile40Phe
CA394301663
NM_001370404.1:c.118A>T