Canonical Allele Identifier: PA645433287
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406107
ClinVar RCV Id: RCV000462249 RCV000569265 RCV002056709
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ser1132Leu
CA046484
NM_000548.5:c.3395C>T