Canonical Allele Identifier: PA2828095548
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207763
ClinVar RCV Id: RCV000190045 RCV001084324 RCV002345684
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Glu1717Lys
CA055186
NM_001363528.2:c.5149G>A