Canonical Allele Identifier: PA2828418272
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12398
ClinVar RCV Id: RCV000013207 RCV000042452
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Leu717Arg
CA016832
NM_001370405.1:c.2150T>G