Canonical Allele Identifier: PA2825954172
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 388596
ClinVar RCV Id: RCV000444035 RCV001088285 RCV000564089 RCV004000499
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Pro56Leu
CA029375
NM_001162426.2:c.167C>T