ClinGen Allele Registry
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Canonical Allele Identifier:
PA916023059
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207745
ClinVar RCV Id:
RCV000468447
RCV001721236
RCV001020274
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Asp899Val
CA319512
NM_001318831.2:c.2696A>T