ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827010538
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Pro1656Ala
CA055040
NM_001318829.2:c.4966C>G