Canonical Allele Identifier: PA2827000711
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535930
ClinVar RCV Id: RCV000644160 RCV002369704 RCV004004005
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Asp251Glu
CA276775635
NM_001318827.2:c.753C>G
CA394315011
NM_001318827.2:c.753C>A