ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658681279
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468115
ClinVar RCV Id:
RCV002330908
RCV000547996
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Tyr1608Cys
CA052633
NM_000548.5:c.4823A>G