Canonical Allele Identifier: PA2825179384
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2061346
ClinVar RCV Id: RCV002939023
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ile40Phe
CA394301663
NM_000548.5:c.118A>T