Canonical Allele Identifier: PA2827004393
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468083
ClinVar RCV Id: RCV000550016 RCV001569152 RCV002330903
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Pro1347Ala
CA050903
NM_001318827.2:c.4039C>G