ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825437113
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Asp984Val
CA394284626
NM_001077183.3:c.2951A>T