Canonical Allele Identifier: PA2827005003
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_001305756.1:p.Gln1513Arg
CA394308158
NM_001318827.2:c.4538A>G