Canonical Allele Identifier: PA645435733
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406048
ClinVar RCV Id: RCV001023801 RCV000497304 RCV001087863 RCV004000709 RCV004533164
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Arg1751Cys
CA054573
NM_000548.5:c.5251C>T