ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825435132
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207711
ClinVar RCV Id:
RCV000230966
RCV000568549
RCV001721235
RCV001118951
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Glu366Lys
CA028150
NM_001077183.3:c.1096G>A