Canonical Allele Identifier: PA2827001104
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49680
ClinVar RCV Id: RCV000042942 RCV000201010 RCV002468995
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Leu373Arg
CA014118
NM_001318827.2:c.1118T>G