ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828094103
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406078
ClinVar RCV Id:
RCV000465567
RCV002329033
RCV004000715
RCV003128805
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Pro1335Ala
CA050641
NM_001363528.2:c.4003C>G