Canonical Allele Identifier: PA2828415142
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49978
ClinVar RCV Id: RCV000043245 RCV001238557 RCV002345329
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Gly1598Asp
CA021290
NM_001370404.1:c.4793G>A