Canonical Allele Identifier: PA2499233300
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1039113
ClinVar RCV Id: RCV001342520 RCV003238861
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ala1716Val
CA394312611
NM_000548.5:c.5147C>T