Canonical Allele Identifier: PA2827015343
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406124
ClinVar RCV Id: RCV000465620 RCV001022340 RCV001568800
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Arg1207Cys
CA050953
NM_001318831.2:c.3619C>T