Canonical Allele Identifier: PA645413076
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411209
ClinVar RCV Id: RCV000470585 RCV002356698
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Thr130Ile
CA037444
NM_000368.5:c.389C>T