Canonical Allele Identifier: PA916023460
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207713
ClinVar RCV Id: RCV000189978 RCV000572652 RCV001085727 RCV003468874
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Pro447Leu
CA319435
NM_001318832.2:c.1340C>T