ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827002837
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207783
ClinVar RCV Id:
RCV000231440
RCV001016356
RCV003884383
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Arg864Cys
CA319592
NM_001318827.2:c.2590C>T