Canonical Allele Identifier: PA2828421645
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 825547
ClinVar RCV Id: RCV001023728 RCV002551879
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Pro1690Ala
CA394314331
NM_001370405.1:c.5068C>G