Canonical Allele Identifier: PA2827003193
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535907
ClinVar RCV Id: RCV000644134 RCV002449026 RCV003128676 RCV004003999
ClinVar Variation Id: 1729298
ClinVar RCV Id: RCV002445598
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Leu1000Phe
CA044925
NM_001318827.2:c.3000A>C
CA394286083
NM_001318827.2:c.3000A>T