ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825577657
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406083
ClinVar RCV Id:
RCV000457700
RCV001023824
RCV003463867
RCV004000717
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Glu1734Lys
CA16615048
NM_001114382.3:c.5200G>A