Canonical Allele Identifier: PA2828416632
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 318307
ClinVar RCV Id: RCV000465522 RCV002379195 RCV000405414 RCV000433208
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ile247Val
CA056277
NM_001370405.1:c.739A>G