Canonical Allele Identifier: PA2827004501
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2961779
ClinVar RCV Id: RCV003822425
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Asp1375Glu
CA394302263
NM_001318827.2:c.4125C>A
CA394302269
NM_001318827.2:c.4125C>G