Canonical Allele Identifier: PA2828415616
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486648
ClinVar RCV Id: RCV000569715 RCV001327371 RCV002260649
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ala1714Pro
CA394315130
NM_001370404.1:c.5140G>C