ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825437296
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Glu1043Lys
CA394286183
NM_001077183.3:c.3127G>A