Canonical Allele Identifier: PA2827003345
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468005
ClinVar RCV Id: RCV000527776 RCV000569864 RCV001584294 RCV004527647
ClinVar Variation Id: 578164
ClinVar RCV Id: RCV000701092 RCV001020078 RCV002509519
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Val1040Leu
CA276746154
NM_001318827.2:c.3118G>T
CA394286664
NM_001318827.2:c.3118G>C