ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825440350
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000211466
RCV000542869
RCV001580472
RCV002415885
ClinVar Variation:
226045
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Val692Ile
CA036245
NM_001077183.3:c.2074G>A