Canonical Allele Identifier: PA2827021243
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41749
ClinVar RCV Id: RCV000034666 RCV001024070 RCV001081523
ClinVar Variation Id: 405942
ClinVar RCV Id: RCV000467233 RCV002348290
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Phe1750Leu
CA022504
NM_001318832.2:c.5250T>G
CA16615055
NM_001318832.2:c.5248T>C
CA394316293
NM_001318832.2:c.5250T>A