Canonical Allele Identifier: PA2825575308
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49247
ClinVar RCV Id: RCV000042506 RCV002513616
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Thr1071Arg
CA018689
NM_001114382.3:c.3212C>G