Canonical Allele Identifier: PA2828411129
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41726
ClinVar RCV Id: RCV000034643 RCV000054863 RCV000122204 RCV000163424 RCV000201296 RCV000227708 RCV004528161
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Gly440Ser
CA014394
NM_001370404.1:c.1318G>A