Canonical Allele Identifier: PA2828418950
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467964
ClinVar RCV Id: RCV000554781 RCV002438413 RCV003999276
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Arg917Trp
CA041738
NM_001370405.1:c.2749C>T