Canonical Allele Identifier: PA2827005120
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_001305756.1:p.Ile1545Thr
CA021368
NM_001318827.2:c.4634T>C