ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827011071
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468161
ClinVar RCV Id:
RCV000548829
RCV000615984
RCV002350301
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Thr1665Pro
CA276760048
NM_001318829.2:c.4993A>C