Canonical Allele Identifier: PA2829982306
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486604
ClinVar RCV Id: RCV000570875 RCV001853806
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Gln1573Arg
CA394308158
NM_021055.3:c.4718A>G