Canonical Allele Identifier: PA2827012227
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 405949
ClinVar RCV Id: RCV000713932 RCV002257693 RCV001086293
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Val1248Ile
CA050403
NM_001318829.2:c.3742G>A