ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573199877
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1424794
ClinVar RCV Id:
RCV001924040
RCV004010903
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Glu494Gln
CA394325437
NM_001318832.2:c.1480G>C