ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645432980
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405954
ClinVar RCV Id:
RCV000462321
RCV002311770
RCV004000677
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Arg976Trp
CA042810
NM_000548.5:c.2926C>T