ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3083289217
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Glu1243Lys
CA394292840
NM_000548.5:c.3727G>A