Canonical Allele Identifier: PA2828413113
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2747514
ClinVar RCV Id: RCV003511639 RCV004011433
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Leu1017Met
CA394285548
NM_001370404.1:c.3049C>A