ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827020547
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
194186
ClinVar RCV:
RCV000594599
RCV001852204
ClinVar Variation:
197025
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.His1584Pro
CA021276
NM_001318832.2:c.4751A>C