ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828094297
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497137
ClinVar RCV Id:
RCV000592461
RCV001084298
RCV002331007
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Pro1392Thr
CA394301760
NM_001363528.2:c.4174C>A