Canonical Allele Identifier: PA2827001353
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41728
ClinVar RCV Id: RCV000034645 RCV000190067 RCV000644164 RCV002390139
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Asn449Lys
CA014912
NM_001318827.2:c.1347C>G
CA394325587
NM_001318827.2:c.1347C>A