Canonical Allele Identifier: PA658680884
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467957
ClinVar RCV Id: RCV000559686 RCV002438411 RCV003237913 RCV003999273
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ala894Val
CA040893
NM_000548.5:c.2681C>T