Canonical Allele Identifier: PA2827000439
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 516774
ClinVar RCV Id: RCV000729897 RCV001024992 RCV001087306 RCV002469218
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Val170Ile
CA055776
NM_001318827.2:c.508G>A