ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658680230
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Lys72Arg
CA394303587
NM_000548.5:c.215A>G