ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828420669
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Lys1430Arg
CA394302120
NM_001370405.1:c.4289A>G