Canonical Allele Identifier: PA2825577576
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2822987
ClinVar RCV Id: RCV003628036
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Lys1716Glu
CA394314411
NM_001114382.3:c.5146A>G