ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827020244
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
953372
ClinVar RCV Id:
RCV001225656
RCV001664766
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Gly1497Asp
CA394305086
NM_001318832.2:c.4490G>A