Canonical Allele Identifier: PA2827001131
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50176
ClinVar RCV Id: RCV000043444 RCV000201101
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Pro382Ser
CA014179
NM_001318827.2:c.1144C>T