Canonical Allele Identifier: PA2825434373
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468014
ClinVar RCV Id: RCV000560861 RCV002341362
ClinVar Variation Id: 1731365
ClinVar RCV Id: RCV002457023
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.Glu114Asp
CA394306402
NM_001077183.3:c.342G>C
CA394306405
NM_001077183.3:c.342G>T