ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573199954
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1432735
ClinVar RCV Id:
RCV001944059
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.His593Arg
CA394272769
NM_001318832.2:c.1778A>G