Canonical Allele Identifier: PA645431948
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 383175
ClinVar RCV Id: RCV000444336 RCV001221267 RCV002318425 RCV004000390
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.His435Tyr
CA029254
NM_000548.5:c.1303C>T