Canonical Allele Identifier: PA645433639
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406101
ClinVar RCV Id: RCV000460265 RCV002365619
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Thr1247Ala
CA048226
NM_000548.5:c.3739A>G