Canonical Allele Identifier: PA2827004897
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 265281
ClinVar RCV Id: RCV000256049 RCV000707658 RCV002338812
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Glu1480Lys
CA10588598
NM_001318827.2:c.4438G>A