Canonical Allele Identifier: PA2825954739
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 572401
ClinVar RCV Id: RCV000693771 RCV002334306
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Val175Phe
CA375372894
NM_001162426.2:c.523G>T