Canonical Allele Identifier: PA262677
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49458
ClinVar RCV Id: RCV000042718 RCV002514167 RCV001557106 RCV003224798
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ile1648Thr
CA021368
NM_000548.5:c.4943T>C