Canonical Allele Identifier: PA645431785
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238088
ClinVar RCV Id: RCV000227485 RCV001024387
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Cys189Tyr
CA055403
NM_000548.5:c.566G>A