Canonical Allele Identifier: PA188338
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 184243
ClinVar RCV Id: RCV000163457 RCV000430228 RCV001083093 RCV003995258
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Glu1179Lys
CA019256
NM_000548.5:c.3535G>A