ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827017739
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.His531Pro
CA394326506
NM_001318832.2:c.1592A>C