Canonical Allele Identifier: PA2828415718
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2039590
ClinVar RCV Id: RCV002900008
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ala1738Val
CA394315700
NM_001370404.1:c.5213C>T