Canonical Allele Identifier: PA645433350
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 373567
ClinVar RCV Id: RCV000413038 RCV003512037
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ser1152Arg
CA046905
NM_000548.5:c.3454A>C
CA394288809
NM_000548.5:c.3456T>A
CA394288819
NM_000548.5:c.3456T>G