Canonical Allele Identifier: PA1139690437
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 971297
ClinVar RCV Id: RCV001247049 RCV002375302
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Glu43Lys
CA394301415
NM_001318832.2:c.127G>A