Canonical Allele Identifier: PA2828415109
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207757
ClinVar RCV Id: RCV000725350 RCV001314556 RCV002336506
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Arg1590Cys
CA053034
NM_001370404.1:c.4768C>T