ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825438474
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406124
ClinVar RCV Id:
RCV000465620
RCV001022340
RCV001568800
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Arg1384Cys
CA050953
NM_001077183.3:c.4150C>T