Canonical Allele Identifier: PA2828411299
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 423778
ClinVar RCV Id: RCV000478401 RCV000691424 RCV003343855 RCV003470587
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ser494Phe
CA030798
NM_001370404.1:c.1481C>T