ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827020005
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238051
ClinVar RCV Id:
RCV000227544
RCV000572080
RCV003153526
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Glu1434Gly
CA051259
NM_001318832.2:c.4301A>G