ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827019755
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000644129
RCV003338711
ClinVar Variation:
535904
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Thr1366Ile
CA050727
NM_001318832.2:c.4097C>T