ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827019473
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ser1280Leu
CA019831
NM_001318832.2:c.3839C>T