Canonical Allele Identifier: PA2828415502
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 575511
ClinVar RCV Id: RCV000697746 RCV001257268 RCV002334334
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Pro1688Ala
CA394314192
NM_001370404.1:c.5062C>G