ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828418456
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Pro768Ser
CA394276608
NM_001370405.1:c.2302C>T