ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828415066
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055464
RCV000590930
RCV002513723
ClinVar Variation:
65243
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.His1576Arg
CA021150
NM_001370404.1:c.4727A>G