ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827020996
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000644101
RCV002334131
RCV003459535
RCV004003994
ClinVar Variation:
535883
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Gln1696Glu
CA394314782
NM_001318832.2:c.5086C>G