Canonical Allele Identifier: PA2828411841
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 571007
ClinVar RCV Id: RCV000692026 RCV002473112
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Cys644Gly
CA394273325
NM_001370404.1:c.1930T>G