Canonical Allele Identifier: PA264745
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65353
ClinVar RCV Id: RCV000055577 RCV000475654 RCV003162432
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Pro1381Leu
CA020000
NM_000548.5:c.4142C>T