Canonical Allele Identifier: PA2827013197
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1506748
ClinVar RCV Id: RCV002006956 RCV002423243
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Gly482Ala
CA394274582
NM_001318831.2:c.1445G>C