ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827013451
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141526
ClinVar RCV Id:
RCV000130092
RCV000530366
RCV004528853
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ala553Thr
CA017108
NM_001318831.2:c.1657G>A