ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827011693
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Pro116Leu
CA394315620
NM_001318831.2:c.347C>T