Canonical Allele Identifier: PA2827014019
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135376
ClinVar RCV Id: RCV000122215 RCV000817259 RCV002256079 RCV003148650 RCV003447498 RCV003997363
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Ser723Cys
CA018139
NM_001318831.2:c.2168C>G