Canonical Allele Identifier: PA645436614
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 405970
ClinVar RCV Id: RCV000465811 RCV002348292
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Glu1801Asp
CA16615209
NM_000548.5:c.5403G>T
CA394316180
NM_000548.5:c.5403G>C