ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827006084
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
663005
ClinVar RCV Id:
RCV000820781
RCV001585759
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Phe114Ser
CA394309071
NM_001318829.2:c.341T>C