ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825435982
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186281
ClinVar RCV Id:
RCV000165847
RCV000531841
RCV001548583
RCV003995458
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Arg628His
CA016151
NM_001077183.3:c.1883G>A