ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827020959
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000043100
RCV001249601
ClinVar Variation:
49834
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Arg1687Gly
CA022207
NM_001318832.2:c.5059C>G