Canonical Allele Identifier: PA2825185722
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1715087
ClinVar RCV Id: RCV002299379 RCV002346581
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Leu1216Phe
CA394291933
NM_000548.5:c.3646C>T