ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645435805
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_000539.2:p.Ile1754Met
CA054841
NM_000548.5:c.5262C>G