ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828413524
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406059
ClinVar RCV Id:
RCV000841759
RCV001082094
RCV001020514
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Arg1130Trp
CA047295
NM_001370404.1:c.3388C>T