ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825436723
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467951
ClinVar RCV Id:
RCV000552388
RCV001770442
RCV002456153
RCV003999272
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Pro854Leu
CA394278313
NM_001077183.3:c.2561C>T