Canonical Allele Identifier: PA2828412264
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 141526
ClinVar RCV Id: RCV000130092 RCV000530366 RCV004528853
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ala753Thr
CA017108
NM_001370404.1:c.2257G>A