Canonical Allele Identifier: PA2828417478
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2706252
ClinVar RCV Id: RCV003512940
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ala508Pro
CA394326234
NM_001370405.1:c.1522G>C