Canonical Allele Identifier: PA915976219
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 423627
ClinVar RCV Id: RCV000480699 RCV000575219 RCV001087822
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Arg978Cys
CA042875
NM_001114382.3:c.2932C>T