ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828412247
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Glu748Lys
CA394276291
NM_001370404.1:c.2242G>A