Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
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Canonical Allele Identifier: PA2825577472

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2771708

ClinVar RCV Id: RCV003512766

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Met1692Ile	CA394312590 NM_001114382.3:c.5076G>T CA394312593 NM_001114382.3:c.5076G>C CA394312596 NM_001114382.3:c.5076G>A