Canonical Allele Identifier: PA2827018950
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 450949
ClinVar RCV Id: RCV000520176 RCV001020414 RCV001085805 RCV004003619
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Pro1129Leu
CA047132
NM_001318832.2:c.3386C>T