Canonical Allele Identifier: PA2828414579
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406105
ClinVar RCV Id: RCV000517116 RCV000470481 RCV000562149 RCV004000719
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ala1442Val
CA051222
NM_001370404.1:c.4325C>T