ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829982844
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207758
ClinVar RCV Id:
RCV000190039
RCV001084596
RCV002336507
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Cys1637Tyr
CA053573
NM_021055.3:c.4910G>A