Canonical Allele Identifier: PA658680952
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467980
ClinVar RCV Id: RCV000530166 RCV002255448
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Arg988His
CA043038
NM_000548.5:c.2963G>A