Canonical Allele Identifier: PA2828415167
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_001357333.1:p.Ile1604Thr
CA021368
NM_001370404.1:c.4811T>C