ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828419777
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000042789
RCV000254034
RCV001069687
ClinVar Variation:
49529
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Trp1165Gly
CA019409
NM_001370405.1:c.3493T>G