ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827006629
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Gln322del
CA2580613370
NM_001318829.2:c.965_967del