ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827008094
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Ala817Val
CA394278406
NM_001318829.2:c.2450C>T