Canonical Allele Identifier: PA2828090602
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 187173
ClinVar RCV Id: RCV000166873 RCV000553448 RCV001762388 RCV003995539
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Ser315Leu
CA023151
NM_001363528.2:c.944C>T