ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825575410
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000544493
RCV002316560
RCV003999287
ClinVar Variation:
467999
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Pro1098Arg
CA045581
NM_001114382.3:c.3293C>G