Canonical Allele Identifier: PA916043303
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 466133
ClinVar RCV Id: RCV000543231 RCV001731763 RCV002323976 RCV003999223
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Thr998Ile
CA036612
NM_001362177.1:c.2993C>T