ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827002894
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055272
RCV000533205
RCV000574785
RCV001531839
ClinVar Variation:
65065
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Arg880Gln
CA018086
NM_001318827.2:c.2639G>A