Canonical Allele Identifier: PA915960216
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 680371
ClinVar RCV Id: RCV000840146 RCV001202480 RCV002336738
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Glu1756Asp
CA054895
NM_000548.5:c.5268G>C
CA394315083
NM_000548.5:c.5268G>T