ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827005551
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_001305756.1:p.Ile1651Met
CA054841
NM_001318827.2:c.4953C>G