Canonical Allele Identifier: PA2827016113
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468126
ClinVar RCV Id: RCV000545542 RCV004024053
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Thr1417Asn
CA394309184
NM_001318831.2:c.4250C>A