ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916024008
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135376
ClinVar RCV Id:
RCV000122215
RCV000817259
RCV002256079
RCV003148650
RCV003447498
RCV003997363
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ser934Cys
CA018139
NM_001318832.2:c.2801C>G