Canonical Allele Identifier: PA2828059394
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 141980
ClinVar RCV Id: RCV000130736 RCV000726223 RCV000764813 RCV001084392 RCV003998074
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Thr193Met
CA008439
NM_001362177.1:c.578C>T