ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827013046
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2711441
ClinVar RCV Id:
RCV003513095
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Tyr448His
CA394273393
NM_001318831.2:c.1342T>C