Canonical Allele Identifier: PA2829983965
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 514715
ClinVar RCV Id: RCV000604792 RCV000644420 RCV002258972
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Gln1736Arg
CA055149
NM_021055.3:c.5207A>G