ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827015423
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405951
ClinVar RCV Id:
RCV000574358
RCV000842193
RCV001085474
RCV004000676
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Gly1228Ser
CA051085
NM_001318831.2:c.3682G>A