Canonical Allele Identifier: PA2825179404
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1442644
ClinVar RCV Id: RCV001969899 RCV002407144
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ala42Val
CA276768623
NM_000548.5:c.125C>T