ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827003237
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207743
ClinVar RCV Id:
RCV000190017
RCV001019560
RCV001085830
RCV004537596
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Gly1011Ser
CA319506
NM_001318827.2:c.3031G>A