ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658681250
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468098
ClinVar RCV Id:
RCV000548577
RCV000571084
RCV001546708
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Ile1518Val
CA051585
NM_000548.5:c.4552A>G