ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828421250
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207757
ClinVar RCV Id:
RCV000725350
RCV001314556
RCV002336506
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Arg1591Cys
CA053034
NM_001370405.1:c.4771C>T