Canonical Allele Identifier: PA2499233280
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1046768
ClinVar RCV Id: RCV001351367 RCV004005243 RCV004036651
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Arg1529Leu
CA394304452
NM_000548.5:c.4586G>T