ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828410723
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000524092
RCV001080775
RCV002379425
RCV004000722
ClinVar Variation:
406116
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Ser318Phe
CA16614697
NM_001370404.1:c.953C>T