ClinGen Allele Registry
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Canonical Allele Identifier:
PA916023844
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535887
ClinVar RCV Id:
RCV000644106
RCV001014943
RCV000765269
RCV001580527
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Arg762Gln
CA276740000
NM_001318832.2:c.2285G>A