Canonical Allele Identifier: PA2499233355
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1058272
ClinVar RCV Id: RCV001367386
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Lys1739Thr
CA394314418
NM_000548.5:c.5216A>C