Canonical Allele Identifier: PA2499240256
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1042335
ClinVar RCV Id: RCV001346269
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Tyr312His
CA375368725
NM_001162426.2:c.934T>C