ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825181197
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Pro497His
CA394325945
NM_000548.5:c.1490C>A