Canonical Allele Identifier: PA2827002065
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486625
ClinVar RCV Id: RCV000566288 RCV000693999 RCV001840684 RCV004001151
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Gly639Val
CA035845
NM_001318827.2:c.1916G>T