ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139692397
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Leu518Pro
CA394326221
NM_001318832.2:c.1553T>C