ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023031
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468007
ClinVar RCV Id:
RCV000548172
RCV001551674
RCV001020102
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Arg878His
CA046129
NM_001318831.2:c.2633G>A