Canonical Allele Identifier: PA2825956969
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5103
ClinVar RCV Id: RCV000005409 RCV000005410 RCV000034607 RCV000054851 RCV000118692 RCV000129684 RCV000278906
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.His681Tyr
CA006123
NM_001162427.2:c.2041C>T