ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828093035
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49247
ClinVar RCV Id:
RCV000042506
RCV002513616
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Thr1028Arg
CA018689
NM_001363528.2:c.3083C>G