Canonical Allele Identifier: PA2828416464
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207703
ClinVar RCV Id: RCV000189962 RCV000205768 RCV000573793 RCV002500580 RCV004537593
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ile195Val
CA055442
NM_001370405.1:c.583A>G