ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645432021
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421682
ClinVar RCV Id:
RCV001704636
RCV002402406
RCV001359632
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Ile531Met
CA16620088
NM_000548.5:c.1593C>G