Canonical Allele Identifier: PA915987498
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 486561
ClinVar RCV Id: RCV000564806 RCV000642049 RCV003237943 RCV003945355
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Gly985Glu
CA035815
NM_001162427.2:c.2954G>A