Canonical Allele Identifier: PA2827019989
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_001305761.1:p.Ala1430Val
CA051222
NM_001318832.2:c.4289C>T