ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580116562
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Ser1723Leu
CA394313901
NM_000548.5:c.5168C>T