ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828421618
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486668
ClinVar RCV Id:
RCV000565556
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Thr1686_Pro1690del
CA658656652
NM_001370405.1:c.5056_5070del