Canonical Allele Identifier: PA2828421623
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_001357334.1:p.Pro1685Ala
CA394314192
NM_001370405.1:c.5053C>G