Canonical Allele Identifier: PA915987464
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207639
ClinVar RCV Id: RCV000189858 RCV000557141
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Ser978Ile
CA319312
NM_001162427.2:c.2933G>T