ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827000383
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238088
ClinVar RCV Id:
RCV000227485
RCV001024387
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Cys152Tyr
CA055403
NM_001318827.2:c.455G>A