Canonical Allele Identifier: PA2828420217
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49282
ClinVar RCV Id: RCV000042541 RCV000457664 RCV002354223 RCV001703933 RCV004537163
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ser1298Arg
CA019836
NM_001370405.1:c.3894C>A
CA394299190
NM_001370405.1:c.3892A>C
CA394299211
NM_001370405.1:c.3894C>G