Canonical Allele Identifier: PA2827016163
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12393
ClinVar RCV Id: RCV000013201 RCV000043065 RCV000055436 RCV000493720 RCV002345240 RCV002496339
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Pro1431Leu
CA021526
NM_001318831.2:c.4292C>T