ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827012892
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ala407Val
CA015881
NM_001318831.2:c.1220C>T