Canonical Allele Identifier: PA2827001804
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49643
ClinVar RCV Id: RCV000042905 RCV000189989 RCV000539587 RCV000768117 RCV000491813
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Arg574Trp
CA015914
NM_001318827.2:c.1720C>T
CA645594269
NM_001318827.2:c.1719_1720delinsTT