ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825434993
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406116
ClinVar RCV Id:
RCV000524092
RCV001080775
RCV002379425
RCV004000722
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Ser318Phe
CA16614697
NM_001077183.3:c.953C>T