ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827020692
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65289
ClinVar RCV Id:
RCV000055511
RCV000163808
RCV000189940
RCV000585252
RCV001081308
RCV004537246
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Glu1623Lys
CA021570
NM_001318832.2:c.4867G>A