ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825577640
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406068
ClinVar RCV Id:
RCV000572414
RCV000589806
RCV001086420
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Ile1731Met
CA054841
NM_001114382.3:c.5193C>G