ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825437452
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406032
ClinVar RCV Id:
RCV000458982
RCV002451088
RCV004000702
RCV004529590
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Arg1085Cys
CA16615117
NM_001077183.3:c.3253C>T