ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828414792
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1047812
ClinVar RCV Id:
RCV001352578
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Thr1498Asn
CA394304832
NM_001370404.1:c.4493C>A