ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827003539
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000841759
RCV001020514
RCV001082094
ClinVar Variation:
406059
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Arg1094Trp
CA047295
NM_001318827.2:c.3280C>T