ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825434141
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1043681
ClinVar RCV Id:
RCV001347824
RCV002368143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Thr41Ile
CA394301702
NM_001077183.3:c.122C>T