ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825575627
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49755
ClinVar RCV Id:
RCV000043020
RCV000177445
RCV000565521
RCV000724630
RCV001086436
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Arg1159Gln
CA019197
NM_001114382.3:c.3476G>A