Canonical Allele Identifier: PA2825955757
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 64790
ClinVar RCV Id: RCV000054977 RCV000474632 RCV000761088 RCV002362687
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Leu360Ile
CA004502
NM_001162427.2:c.1078C>A