ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827020966
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372688
ClinVar RCV Id:
RCV001023775
RCV000689057
RCV001705542
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Arg1689His
CA054529
NM_001318832.2:c.5066G>A