Canonical Allele Identifier: PA2827013320
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 380717
ClinVar RCV Id: RCV000436141 RCV001359510 RCV002429378 RCV003996049
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Ser516Phe
CA036848
NM_001318831.2:c.1547C>T