Canonical Allele Identifier: PA2825181123
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1424794
ClinVar RCV Id: RCV001924040 RCV004010903
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Glu483Gln
CA394325437
NM_000548.5:c.1447G>C