ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658681292
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486604
ClinVar RCV Id:
RCV000570875
RCV001853806
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Gln1616Arg
CA394308158
NM_000548.5:c.4847A>G