ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499233304
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1025177
ClinVar RCV Id:
RCV001325462
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Asn1731Ser
CA054360
NM_000548.5:c.5192A>G