Canonical Allele Identifier: PA166983
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41746
ClinVar RCV Id: RCV000034663 RCV000054855 RCV000122242 RCV000130722 RCV000202756 RCV004534724
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Gly1787Ser
CA022408
NM_000548.5:c.5359G>A