ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827007584
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Pro636Arg
CA16606930
NM_001318829.2:c.1907C>G