Canonical Allele Identifier: PA2827003050
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238007
ClinVar RCV Id: RCV000230846 RCV001018163 RCV001551091 RCV003998818
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Gln930Glu
CA044006
NM_001318827.2:c.2788C>G