ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139675373
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Thr1572Met
CA394307430
NM_000548.5:c.4715C>T