Canonical Allele Identifier: PA2825955768
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 48752
ClinVar RCV Id: RCV000041999 RCV000055012 RCV000422201 RCV001010542 RCV000988278 RCV001165673
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Thr416Ile
CA004523
NM_001162426.2:c.1247C>T