ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828410467
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Ile240Val
CA319418
NM_001370404.1:c.718A>G