Canonical Allele Identifier: PA645432460
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 281384
ClinVar RCV Id: RCV000515105 RCV000564756 RCV001086437
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ala765Val
CA10603864
NM_000548.5:c.2294C>T