ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827009124
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Ala1217Val
CA394297766
NM_001318829.2:c.3650C>T