Canonical Allele Identifier: PA2827009630
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486695
ClinVar RCV Id: RCV000565264 RCV001859982
ClinVar Variation Id: 1398873
ClinVar RCV Id: RCV001915287 RCV002331423
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Glu1375Asp
CA394302506
NM_001318829.2:c.4125G>C
CA394302508
NM_001318829.2:c.4125G>T