Canonical Allele Identifier: PA2828412133
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 380717
ClinVar RCV Id: RCV000436141 RCV001359510 RCV002429378 RCV003996049
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ser716Phe
CA036848
NM_001370404.1:c.2147C>T