Canonical Allele Identifier: PA2828411668
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49175
ClinVar RCV Id: RCV000042431 RCV001852875
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Tyr598His
CA015786
NM_001370404.1:c.1792T>C