Canonical Allele Identifier: PA2828414696
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1021319
ClinVar RCV Id: RCV001321059 RCV001760405 RCV002341657
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Pro1473Ala
CA394302993
NM_001370404.1:c.4417C>G