Canonical Allele Identifier: PA2825181278
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 655069
ClinVar RCV Id: RCV000811171
ClinVar Variation Id: 1720529
ClinVar RCV Id: RCV002298256
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Leu511Phe
CA031010
NM_000548.5:c.1533G>T
CA394326294
NM_000548.5:c.1533G>C