ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827003764
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.His1164Tyr
CA16615000
NM_001318827.2:c.3490C>T