Canonical Allele Identifier: PA916023375
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207710
ClinVar RCV Id: RCV000189974 RCV000754678 RCV000812345 RCV002257481 RCV003462292 RCV003996880
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Leu372Val
CA319427
NM_001318832.2:c.1114C>G