Canonical Allele Identifier: PA2827001182
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65257
ClinVar RCV Id: RCV000055478 RCV000475576 RCV001010823
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Ser396Cys
CA014387
NM_001318827.2:c.1187C>G