Canonical Allele Identifier: PA915986856
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411242
ClinVar RCV Id: RCV000474131 RCV000561523 RCV003476097
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Thr300Ile
CA039371
NM_001162426.2:c.899C>T