Canonical Allele Identifier: PA658804979
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535880
ClinVar RCV Id: RCV000644098 RCV001013286 RCV004003992
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Pro605Leu
CA394272977
NM_000548.5:c.1814C>T