Canonical Allele Identifier: PA2828415136
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 197025
ClinVar RCV Id: RCV000594599 RCV001852204
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.His1596Pro
CA021276
NM_001370404.1:c.4787A>C