Canonical Allele Identifier: PA916023809
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_001305761.1:p.Leu728Arg
CA016832
NM_001318832.2:c.2183T>G