Canonical Allele Identifier: PA2827015517
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49490
ClinVar RCV Id: RCV000042750 RCV001852889 RCV003441731
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Pro1253Thr
CA020509
NM_001318831.2:c.3757C>A