Canonical Allele Identifier: PA2827009362
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207753
ClinVar RCV Id: RCV000491452 RCV000713933 RCV001087398 RCV003996896
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Gly1293Val
CA050682
NM_001318829.2:c.3878G>T