Canonical Allele Identifier: PA916023311
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 405962
ClinVar RCV Id: RCV001086904 RCV000732320 RCV002255384 RCV004000681
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Arg319Trp
CA056666
NM_001318832.2:c.955C>T