Canonical Allele Identifier: PA2828094400
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535928
ClinVar RCV Id: RCV000644158 RCV002331189 RCV004004004
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Thr1419Ile
CA051214
NM_001363528.2:c.4256C>T