Canonical Allele Identifier: PA658681196
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486632
ClinVar RCV Id: RCV000568648 RCV000644236 RCV001558891 RCV002476253
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Gln1419Arg
CA050713
NM_000548.5:c.4256A>G