ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827013324
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Arg518Ser
CA394274850
NM_001318831.2:c.1552C>A