ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825438841
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64985
ClinVar RCV Id:
RCV000055189
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Val1480Gly
CA020797
NM_001077183.3:c.4439T>G