ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827020476
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000042587
RCV001383217
ClinVar Variation:
49327
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.His1564Tyr
CA021147
NM_001318832.2:c.4690C>T