ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829978765
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000458982
RCV002451088
RCV004000702
RCV004529590
ClinVar Variation:
406032
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Arg1086Cys
CA16615117
NM_021055.3:c.3256C>T