Canonical Allele Identifier: PA2827013513
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 318320
ClinVar RCV Id: RCV000309089 RCV000644137 RCV002446569
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Thr571Ile
CA10637328
NM_001318831.2:c.1712C>T