Canonical Allele Identifier: PA2827013118
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467912
ClinVar RCV Id: RCV000526190 RCV001577413 RCV001013916 RCV003999262
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Leu463Phe
CA035428
NM_001318831.2:c.1387C>T