ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829978751
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Arg1084Trp
CA046408
NM_021055.3:c.3250C>T