ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827015599
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468098
ClinVar RCV Id:
RCV000548577
RCV000571084
RCV001546708
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ile1274Val
CA051585
NM_001318831.2:c.3820A>G