Canonical Allele Identifier: PA2828418133
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 937500
ClinVar RCV Id: RCV001206521 RCV002418687
ClinVar Variation Id: 1052187
ClinVar RCV Id: RCV001360322 RCV003382553
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Val679Leu
CA394274552
NM_001370405.1:c.2035G>C
CA394274554
NM_001370405.1:c.2035G>T