ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825439408
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
76298
ClinVar RCV:
RCV000055589
RCV002345361
ClinVar Variation:
65364
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Leu1641Pro
CA021783
NM_001077183.3:c.4922T>C