ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827001746
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49175
ClinVar RCV Id:
RCV000042431
RCV001852875
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Tyr561His
CA015786
NM_001318827.2:c.1681T>C