Canonical Allele Identifier: PA2828412941
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 229369
ClinVar RCV Id: RCV000218870 RCV000477004 RCV000574771 RCV003153493
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Gly957Glu
CA043736
NM_001370404.1:c.2870G>A