ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828413456
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Gly1113Ala
CA394288926
NM_001370404.1:c.3338G>C