ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023784
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000211466
RCV000542869
RCV001580472
RCV002415885
ClinVar Variation:
226045
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Val703Ile
CA036245
NM_001318832.2:c.2107G>A