ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827016150
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406102
ClinVar RCV Id:
RCV000466909
RCV001023422
RCV001538711
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ile1428Val
CA053492
NM_001318831.2:c.4282A>G