ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023607
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467892
ClinVar RCV Id:
RCV000545413
RCV001012884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Thr588Ile
CA033165
NM_001318832.2:c.1763C>T