ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825439526
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Tyr1669Cys
CA394314314
NM_001077183.3:c.5006A>G