Canonical Allele Identifier: PA658805040
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 536006
ClinVar RCV Id: RCV000644267 RCV001016255 RCV002264970 RCV004004025
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.His890Tyr
CA040850
NM_000548.5:c.2668C>T