Canonical Allele Identifier: PA658680951
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467979
ClinVar RCV Id: RCV000556209 RCV001755848 RCV003302849 RCV003999281
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Arg988Cys
CA043032
NM_000548.5:c.2962C>T