ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827018726
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000544493
RCV002316560
RCV003999287
ClinVar Variation:
467999
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Pro1065Arg
CA045581
NM_001318832.2:c.3194C>G