ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827019943
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000462201
RCV004000704
ClinVar Variation:
406035
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Arg1418Gly
CA051088
NM_001318832.2:c.4252A>G