Canonical Allele Identifier: PA2828414472
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 497137
ClinVar RCV Id: RCV000592461 RCV001084298 RCV002331007
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Pro1414Thr
CA394301760
NM_001370404.1:c.4240C>A