Canonical Allele Identifier: PA2499248258
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1040960
ClinVar RCV Id: RCV001344698
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Leu987Pro
CA394292479
NM_001318831.2:c.2960T>C