ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828421557
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Arg1670His
CA021840
NM_001370405.1:c.5009G>A