Canonical Allele Identifier: PA2828095624
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 450528
ClinVar RCV Id: RCV000522751 RCV000644277 RCV001024028 RCV004003612 RCV004541631
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Ser1733Leu
CA055299
NM_001363528.2:c.5198C>T