Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2829981684

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1718303

ClinVar RCV Id: RCV002299719

ClinVar Variation Id: 2810197

ClinVar RCV Id: RCV003627812

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Val1488Leu	CA394304492 NM_021055.3:c.4462G>C CA394304496 NM_021055.3:c.4462G>T