Canonical Allele Identifier: PA645433004
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 229369
ClinVar RCV Id: RCV000218870 RCV000477004 RCV000574771 RCV003153493
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Gly1001Glu
CA043736
NM_000548.5:c.3002G>A