Canonical Allele Identifier: PA2828060172
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 466045
ClinVar RCV Id: RCV000536952 RCV001013415 RCV003159132 RCV003999197
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Thr503Ile
CA029981
NM_001362177.1:c.1508C>T