Canonical Allele Identifier: PA2828413723
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 383442
ClinVar RCV Id: RCV001020951 RCV000964609 RCV001703809 RCV004533019 RCV003235210
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ala1193Val
CA048133
NM_001370404.1:c.3578C>T