ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827015973
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65301
ClinVar RCV Id:
RCV000055523
RCV000413607
RCV001854154
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Thr1379Ile
CA021153
NM_001318831.2:c.4136C>T