ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827019859
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468085
ClinVar RCV Id:
RCV000533905
RCV001022339
RCV003999315
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Arg1395Gly
CA050943
NM_001318832.2:c.4183C>G