Canonical Allele Identifier: PA2827015514
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49491
ClinVar RCV Id: RCV000042751 RCV002326760 RCV003511986
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Pro1253Arg
CA020517
NM_001318831.2:c.3758C>G