Canonical Allele Identifier: PA2827002684
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467951
ClinVar RCV Id: RCV000552388 RCV001770442 RCV002456153 RCV003999272
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Pro817Leu
CA394278313
NM_001318827.2:c.2450C>T